Filter

Refine by collections

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 31 - 40 of 83 items for :

  • chromosome alterations x
Clear All
P G Murray Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by P G Murray in
Google Scholar
PubMed Close
,
D Hanson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by D Hanson in
Google Scholar
PubMed Close
,
T Coulson Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by T Coulson in
Google Scholar
PubMed Close
,
A Stevens Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by A Stevens in
Google Scholar
PubMed Close
,
A Whatmore Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by A Whatmore in
Google Scholar
PubMed Close
,
R L Poole Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by R L Poole in
Google Scholar
PubMed Close
,
D J Mackay Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by D J Mackay in
Google Scholar
PubMed Close
,
G C M Black Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by G C M Black in
Google Scholar
PubMed Close
, and
P E Clayton Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK
Centre for Paediatrics and Child Health, Faculty of Medicine, Centre for Genetic Medicine, 5th Floor Research, Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, UK

Search for other papers by P E Clayton in
Google Scholar
PubMed Close

abnormalities in basic cellular growth as well as alterations in cellular responses to growth factor stimulation. The Cul7 −/− mouse displays impaired pre-natal growth and abnormalities in placental vasculature, but dies from respiratory distress after birth

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0065
Volume/Issue:
Volume 2: Issue 4
Open access
Hui Li Department of Thyroid Surgery, The Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University/Hunan Cancer Hospital, Changsha, Hunan, P. R. China.

Search for other papers by Hui Li in
Google Scholar
PubMed Close
and
Peng Wu Department of Thyroid Surgery, The Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University/Hunan Cancer Hospital, Changsha, Hunan, P. R. China.

Search for other papers by Peng Wu in
Google Scholar
PubMed Close

mechanisms of thyroid cancer’, has been pivotal in advancing understanding of epigenetics in thyroid cancer. It explores the significant role of epigenetic alterations, including DNA methylation and histone modification patterns, in disease progression. The

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-24-0087
Volume/Issue:
Volume 13: Issue 9
Open access
Hans Valdemar López Krabbe Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Hans Valdemar López Krabbe in
Google Scholar
PubMed Close
,
Jørgen Holm Petersen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Section of Biostatistics, University of Copenhagen, Copenhagen, Denmark

Search for other papers by Jørgen Holm Petersen in
Google Scholar
PubMed Close
,
Louise Laub Asserhøj Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Fertility, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark

Search for other papers by Louise Laub Asserhøj in
Google Scholar
PubMed Close
,
Trine Holm Johannsen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Trine Holm Johannsen in
Google Scholar
PubMed Close
,
Peter Christiansen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Peter Christiansen in
Google Scholar
PubMed Close
,
Rikke Beck Jensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

Search for other papers by Rikke Beck Jensen in
Google Scholar
PubMed Close
,
Line Hartvig Cleemann Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Line Hartvig Cleemann in
Google Scholar
PubMed Close
,
Casper P Hagen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Casper P Hagen in
Google Scholar
PubMed Close
,
Lærke Priskorn Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Lærke Priskorn in
Google Scholar
PubMed Close
,
Niels Jørgensen Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Niels Jørgensen in
Google Scholar
PubMed Close
,
Katharina M Main Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

Search for other papers by Katharina M Main in
Google Scholar
PubMed Close
,
Anders Juul Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark

Search for other papers by Anders Juul in
Google Scholar
PubMed Close
, and
Lise Aksglaede Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark

Search for other papers by Lise Aksglaede in
Google Scholar
PubMed Close

studies have identified genome-wide alterations affecting both autosomes and sex chromosomes, indicating that a complex combination of the intrinsic genetic background, hypogonadism, as well as life style factors is involved and may potentially explain

Article Type:
Research Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0031
Volume/Issue:
Volume 12: Issue 7
Open access
Luis Eduardo Barbalho de Mello Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil
Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

Search for other papers by Luis Eduardo Barbalho de Mello in
Google Scholar
PubMed Close
,
Thaise Nayane Ribeiro Carneiro Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

Search for other papers by Thaise Nayane Ribeiro Carneiro in
Google Scholar
PubMed Close
,
Aline Neves Araujo Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

Search for other papers by Aline Neves Araujo in
Google Scholar
PubMed Close
,
Camila Xavier Alves Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

Search for other papers by Camila Xavier Alves in
Google Scholar
PubMed Close
,
Pedro Alexandre Favoretto Galante Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

Search for other papers by Pedro Alexandre Favoretto Galante in
Google Scholar
PubMed Close
,
Vanessa Candiotti Buzatto Centro de Oncologia Molecular, Hospital Sírio-libanês, São Paulo, São Paulo, Brazil

Search for other papers by Vanessa Candiotti Buzatto in
Google Scholar
PubMed Close
,
Maria das Graças de Almeida Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil
Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil

Search for other papers by Maria das Graças de Almeida in
Google Scholar
PubMed Close
,
Karina Marques Vermeulen-Serpa Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

Search for other papers by Karina Marques Vermeulen-Serpa in
Google Scholar
PubMed Close
,
Sancha Helena de Lima Vale Department of Clinical and Toxicological Analyses, Natal, Rio Grande do Norte, Brazil
Department of Nutrition, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

Search for other papers by Sancha Helena de Lima Vale in
Google Scholar
PubMed Close
,
Fernando José de Pinto Paiva Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

Search for other papers by Fernando José de Pinto Paiva in
Google Scholar
PubMed Close
,
José Brandão-Neto Postgraduate Program in Health Sciences, Universidade Federal do Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil

Search for other papers by José Brandão-Neto in
Google Scholar
PubMed Close
, and
Janete Maria Cerutti Genetic Bases of Thyroid Tumors Laboratory, Division of Genetics, Department of Morphology and Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil

Search for other papers by Janete Maria Cerutti in
Google Scholar
PubMed Close

reported FNMTC-associated chromosomal loci ( 3 , 15 , 16 , 17 , 18 ) and predisposing risk variants in over 100 genes, including SRGAP1 , CHEK2 , SRRM2 , TIFF-1/NKX2 , FOXE1 , NOP53 , HABP2 , ANO7 , CAV2 , KANK1 , PIK3CB , PKD1L1 , PTPRF

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-21-0406
Volume/Issue:
Volume 11: Issue 1
Open access
Huy Gia Vuong Department of Pathology, Cho Ray Hospital, Ho Chi Minh City, Vietnam

Search for other papers by Huy Gia Vuong in
Google Scholar
PubMed Close
,
Uyen N P Duong Pham Ngoc Thach University of Medicine, Ho Chi Minh City, Vietnam

Search for other papers by Uyen N P Duong in
Google Scholar
PubMed Close
,
Ahmed M A Altibi Faculty of Medicine, University of Jordan, Amman, Jordan

Search for other papers by Ahmed M A Altibi in
Google Scholar
PubMed Close
,
Hanh T T Ngo Department of Pathology, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam

Search for other papers by Hanh T T Ngo in
Google Scholar
PubMed Close
,
Thong Quang Pham Department of Pathology, Cho Ray Hospital, Ho Chi Minh City, Vietnam

Search for other papers by Thong Quang Pham in
Google Scholar
PubMed Close
,
Hung Minh Tran Faculty of Medicine, University of Medicine and Pharmacy, Ho Chi Minh City, Vietnam

Search for other papers by Hung Minh Tran in
Google Scholar
PubMed Close
,
Greta Gandolfi Laboratory of Translational Research, Arcispedale S. Maria Nuova-IRCCS, Reggio Emilia, Italy

Search for other papers by Greta Gandolfi in
Google Scholar
PubMed Close
, and
Lewis Hassell Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA

Search for other papers by Lewis Hassell in
Google Scholar
PubMed Close

pathogenesis in PTC. Several genetic alterations have been described in PTC ( 4 ). Among them, BRAF mutation, especially BRAF V600E , is the most common mutation in PTC; however, its prognostic role in PTC is still debated ( 5 , 6 , 7 ). Another recently

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-17-0010
Volume/Issue:
Volume 6: Issue 3
Open access
Djeda Belharazem Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Djeda Belharazem in
Google Scholar
PubMed Close
,
Matthias Kirchner Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany
Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Matthias Kirchner in
Google Scholar
PubMed Close
,
Franziska Geissler Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Franziska Geissler in
Google Scholar
PubMed Close
,
Peter Bugert Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Peter Bugert in
Google Scholar
PubMed Close
,
Martin Spahn Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Martin Spahn in
Google Scholar
PubMed Close
,
Burkhard Kneitz Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Burkhard Kneitz in
Google Scholar
PubMed Close
,
Hubertus Riedmiller Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Hubertus Riedmiller in
Google Scholar
PubMed Close
,
Christian Sauer Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Christian Sauer in
Google Scholar
PubMed Close
,
Stefan Küffer Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Stefan Küffer in
Google Scholar
PubMed Close
,
Lutz Trojan Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Lutz Trojan in
Google Scholar
PubMed Close
,
Christian Bolenz Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Christian Bolenz in
Google Scholar
PubMed Close
,
Maurice Stephan Michel Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Maurice Stephan Michel in
Google Scholar
PubMed Close
,
Alexander Marx Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Alexander Marx in
Google Scholar
PubMed Close
, and
Philipp Ströbel Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany
Institute of Pathology, Institute of Pathology Nordhessen, Institute of Transfusion Medicine and Immunology, Departments of Urology and Pediatric Urology, University Medical Center Mannheim, Institute of Pathology, University Medical Center Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1–3, 68135 Mannheim, Germany

Search for other papers by Philipp Ströbel in
Google Scholar
PubMed Close

(e.g. methylation) that usually allow expression of only one allele in a parent-of-origin-dependent fashion (6) . Loss of imprinting (LOI) is considered one of the earliest (7) and most abundant alterations in cancer (8) . Among the 90 imprinted

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-12-0054
Volume/Issue:
Volume 1: Issue 2
Open access
Susana Pastor Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

Search for other papers by Susana Pastor in
Google Scholar
PubMed Close
,
Abdelmounaim Akdi Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

Search for other papers by Abdelmounaim Akdi in
Google Scholar
PubMed Close
,
Eddy R González Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

Search for other papers by Eddy R González in
Google Scholar
PubMed Close
,
Juan Castell Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

Search for other papers by Juan Castell in
Google Scholar
PubMed Close
,
Josefina Biarnés Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

Search for other papers by Josefina Biarnés in
Google Scholar
PubMed Close
,
Ricard Marcos Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

Search for other papers by Ricard Marcos in
Google Scholar
PubMed Close
, and
Antonia Velázquez Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

Search for other papers by Antonia Velázquez in
Google Scholar
PubMed Close

. Table 2 Information of the studied SNPs and allele frequencies between cases and controls in a Spanish population. Chromosome MAF Gene SNP ID Number Position a Nucleotide change Gene polymorphism Control n =479 Cases n =398 P value b THRA rs939348 17

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-12-0017
Volume/Issue:
Volume 1: Issue 2
Open access
M Guftar Shaikh Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

Search for other papers by M Guftar Shaikh in
Google Scholar
PubMed Close
,
Timothy G Barrett Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK

Search for other papers by Timothy G Barrett in
Google Scholar
PubMed Close
,
Nicola Bridges Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK

Search for other papers by Nicola Bridges in
Google Scholar
PubMed Close
,
Robin Chung Research Working Group, Prader-Willi Syndrome Association, Northampton, UK

Search for other papers by Robin Chung in
Google Scholar
PubMed Close
,
Evelien F Gevers Department of Paediatric Endocrinology, Barts Health NHS Trust, Royal London Hospital, London, UK
Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK

Search for other papers by Evelien F Gevers in
Google Scholar
PubMed Close
,
Anthony P Goldstone PsychoNeuroEndocrinologyResearch Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK

Search for other papers by Anthony P Goldstone in
Google Scholar
PubMed Close
,
Anthony Holland Department of Psychiatry, University of Cambridge, Cambridge, UK

Search for other papers by Anthony Holland in
Google Scholar
PubMed Close
,
Shankar Kanumakala Royal Alexandra Children’s Hospital, Brighton, UK

Search for other papers by Shankar Kanumakala in
Google Scholar
PubMed Close
,
Ruth Krone Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK

Search for other papers by Ruth Krone in
Google Scholar
PubMed Close
,
Andreas Kyriakou Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus

Search for other papers by Andreas Kyriakou in
Google Scholar
PubMed Close
,
E Anne Livesey Royal Alexandra Children’s Hospital, Brighton, UK
Sussex Community NHS Trust, Brighton, UK

Search for other papers by E Anne Livesey in
Google Scholar
PubMed Close
,
Angela K Lucas-Herald Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

Search for other papers by Angela K Lucas-Herald in
Google Scholar
PubMed Close
,
Christina Meade CHI at Tallaght University Hospital, Dublin, Republic of Ireland

Search for other papers by Christina Meade in
Google Scholar
PubMed Close
,
Susan Passmore Prader-Willi Syndrome Association, Northampton, UK

Search for other papers by Susan Passmore in
Google Scholar
PubMed Close
,
Edna Roche CHI at Tallaght University Hospital, Dublin, Republic of Ireland
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland

Search for other papers by Edna Roche in
Google Scholar
PubMed Close
,
Chris Smith Royal Alexandra Children’s Hospital, Brighton, UK

Search for other papers by Chris Smith in
Google Scholar
PubMed Close
, and
Sarita Soni Learning Disability Psychiatry, NHS Greater Glasgow and Clyde, Glasgow, UK

Search for other papers by Sarita Soni in
Google Scholar
PubMed Close

Introduction Prader–Willi syndrome (PWS) is a rare complex genetic disorder arising from the lack of expression of the paternally inherited imprinted genes on chromosome 15q11-q13. The most common causes are paternal deletion (65–70%) and

Article Type:
Other
Collections:
Obesity
DOI:
https://doi.org/10.1530/EC-24-0091
Volume/Issue:
Volume 13: Issue 8
Open access
Tingting Xia Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Tingting Xia in
Google Scholar
PubMed Close
,
Hongru Sun Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Hongru Sun in
Google Scholar
PubMed Close
,
Hao Huang Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Hao Huang in
Google Scholar
PubMed Close
,
Haoran Bi Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Haoran Bi in
Google Scholar
PubMed Close
,
Rui Pu Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Rui Pu in
Google Scholar
PubMed Close
,
Lei Zhang Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Lei Zhang in
Google Scholar
PubMed Close
,
Yuanyuan Zhang Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Yuanyuan Zhang in
Google Scholar
PubMed Close
,
Ying Liu Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Ying Liu in
Google Scholar
PubMed Close
,
Jing Xu Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Jing Xu in
Google Scholar
PubMed Close
,
Justina Ucheojor Onwuka Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Justina Ucheojor Onwuka in
Google Scholar
PubMed Close
,
Yupeng Liu Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Yupeng Liu in
Google Scholar
PubMed Close
,
Binbin Cui Department of Colorectal Surgery, The Third Hospital of Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Binbin Cui in
Google Scholar
PubMed Close
, and
Yashuang Zhao Department of Epidemiology, Public Health College, Harbin Medical University, Harbin, Heilongjiang Province, People’s Republic of China

Search for other papers by Yashuang Zhao in
Google Scholar
PubMed Close

development of CRC involves alterations not only in tumor tissues but also other organ systems, including the immune system ( 13 , 14 ). Leukocytes serve as a major component of immunology and have the advantages of easy access and detection. Analyses have

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0122
Volume/Issue:
Volume 8: Issue 7
Open access
Fidéline Bonnet-Serrano Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Hormonology Department, Cochin Hospital, Paris, France

Search for other papers by Fidéline Bonnet-Serrano in
Google Scholar
PubMed Close
,
Maxime Barat Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Radiology Department, Cochin Hospital, Paris, France

Search for other papers by Maxime Barat in
Google Scholar
PubMed Close
,
Anna Vaczlavik Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

Search for other papers by Anna Vaczlavik in
Google Scholar
PubMed Close
,
Anne Jouinot Inserm U1016-CNRS UMR8104, Paris, France

Search for other papers by Anne Jouinot in
Google Scholar
PubMed Close
,
Lucas Bouys Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

Search for other papers by Lucas Bouys in
Google Scholar
PubMed Close
,
Christelle Laguillier-Morizot Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France

Search for other papers by Christelle Laguillier-Morizot in
Google Scholar
PubMed Close
,
Corinne Zientek Hormonology Department, Cochin Hospital, Paris, France

Search for other papers by Corinne Zientek in
Google Scholar
PubMed Close
,
Catherine Simonneau Hormonology Department, Cochin Hospital, Paris, France

Search for other papers by Catherine Simonneau in
Google Scholar
PubMed Close
,
Etienne Larger Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Diabetology Department, Cochin Hospital, Paris, France

Search for other papers by Etienne Larger in
Google Scholar
PubMed Close
,
Laurence Guignat Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

Search for other papers by Laurence Guignat in
Google Scholar
PubMed Close
,
Lionel Groussin Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

Search for other papers by Lionel Groussin in
Google Scholar
PubMed Close
,
Guillaume Assié Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

Search for other papers by Guillaume Assié in
Google Scholar
PubMed Close
,
Jean Guibourdenche Université Paris Cité, Paris, France
Hormonology Department, Cochin Hospital, Paris, France
INSERM, Physiopathologie et Pharmacotoxicologie Placentaire Humaine : Microbiote Pré & Post natal, Paris, France

Search for other papers by Jean Guibourdenche in
Google Scholar
PubMed Close
,
Ioannis Nicolis Université Paris Cité, Paris, France
UR 7537 BioSTM, Paris, France

Search for other papers by Ioannis Nicolis in
Google Scholar
PubMed Close
,
Marie-Claude Menet Institut de Chimie Physique, Université Paris-Saclay-CNRS, UMR8000, Orsay, France

Search for other papers by Marie-Claude Menet in
Google Scholar
PubMed Close
, and
Jérôme Bertherat Université Paris Cité, Paris, France
Inserm U1016-CNRS UMR8104, Paris, France
Reference Center for Rare Adrenal Diseases, Endocrinology Department, Cochin Hospital, Paris, France

Search for other papers by Jérôme Bertherat in
Google Scholar
PubMed Close

cells located in the subcapsular region and in adrenocortical nodules, probably responsible for a paracrine stimulation of cortisol secretion by neighboring cells ( 11 ). The underlying mechanisms of these two alterations have not been fully elucidated

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-22-0063
Volume/Issue:
Volume 11: Issue 8
Open access