Filter

Refine by collections

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 11 - 20 of 78 items for :

  • methylation x
Clear All
Elham Barazeghi Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

Search for other papers by Elham Barazeghi in
Google Scholar
PubMed Close
,
Per Hellman Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

Search for other papers by Per Hellman in
Google Scholar
PubMed Close
,
Gunnar Westin Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

Search for other papers by Gunnar Westin in
Google Scholar
PubMed Close
, and
Peter Stålberg Department of Surgical Sciences, Uppsala University, Uppsala University Hospital, Rudbeck Laboratory, Uppsala, Sweden

Search for other papers by Peter Stålberg in
Google Scholar
PubMed Close

tumors ( 4 ). Promoter DNA methylation studies revealed increased RASSF1A / CTNNB1 methylation associated with metastatic progression, and epigenetic repression of TCEB3C in SI-NETs ( 5 , 6 ). A comprehensive integrated molecular analysis of a large

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0279
Volume/Issue:
Volume 8: Issue 8
Open access
K L Gatford School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by K L Gatford in
Google Scholar
PubMed Close
,
G K Heinemann School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by G K Heinemann in
Google Scholar
PubMed Close
,
S D Thompson School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by S D Thompson in
Google Scholar
PubMed Close
,
J V Zhang School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by J V Zhang in
Google Scholar
PubMed Close
,
S Buckberry School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by S Buckberry in
Google Scholar
PubMed Close
,
J A Owens School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by J A Owens in
Google Scholar
PubMed Close
,
G A Dekker School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by G A Dekker in
Google Scholar
PubMed Close
,
C T Roberts School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by C T Roberts in
Google Scholar
PubMed Close
, and
on behalf of the SCOPE Consortium School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

Search for other papers by on behalf of the SCOPE Consortium in
Google Scholar
PubMed Close

locus, who therefore express maternal and paternal IGF2 alleles, often have pre- and postnatal overgrowth, suggesting increased IGF2 availability (reviewed by (40) ). This suggests that SNPs associated with altered DNA methylation at this locus may

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0068
Volume/Issue:
Volume 3: 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
K G Samsom Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands

Search for other papers by K G Samsom in
Google Scholar
PubMed Close
,
L M van Veenendaal Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands

Search for other papers by L M van Veenendaal in
Google Scholar
PubMed Close
,
G D Valk Department of Endocrine Oncology, University Medical Centre Utrecht, Utrecht, The Netherlands

Search for other papers by G D Valk in
Google Scholar
PubMed Close
,
M R Vriens Department of Surgical Oncology and Endocrine Surgery, University Medical Centre Utrecht, Utrecht, The Netherlands

Search for other papers by M R Vriens in
Google Scholar
PubMed Close
,
M E T Tesselaar Department of Medical Oncology, Netherlands Cancer Institute, Amsterdam, The Netherlands

Search for other papers by M E T Tesselaar in
Google Scholar
PubMed Close
, and
J G van den Berg Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands

Search for other papers by J G van den Berg in
Google Scholar
PubMed Close

((((((((((genom*[Title/Abstract]) OR epigenetic*[Title/Abstract]) OR gene*[Title/Abstract]) OR exom*[Title/Abstract]) OR chromosom*[Title/Abstract]) OR molecular*[Title/Abstract]) OR allel*[Title/Abstract])) OR sequenc*[Title/Abstract]) OR (((((methylation

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0206
Volume/Issue:
Volume 8: Issue 7
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

various diseases, including thyroid cancer ( 3 , 4 ). This regulation includes DNA methylation, chromatin remodeling, histone modifications, and the expression of diverse non-coding RNAs (ncRNAs), such as microRNAs (miRNAs), long ncRNAs (lncRNAs), and

Article Type:
Research Article
Collections:
Thyroid
DOI:
https://doi.org/10.1530/EC-24-0087
Volume/Issue:
Volume 13: Issue 9
Open access
Nancy J Olsen Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

Search for other papers by Nancy J Olsen in
Google Scholar
PubMed Close
,
Ann L Benko Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

Search for other papers by Ann L Benko in
Google Scholar
PubMed Close
, and
William J Kovacs Division of Rheumatology, Division of Endocrinology, Diabetes, and Metabolism, College of Medicine, Milton S Hershey Medical Center, The Pennsylvania State University, Mail Code H044, 500 University Drive, Hershey, Pennsylvania 17033-0850, USA

Search for other papers by William J Kovacs in
Google Scholar
PubMed Close

medications at the time of entry into the study. Androgen receptor CAG repeat genotyping, AR gene methylation analysis, and calculation of weighted AR CAG repeat length Genomic DNA was isolated from peripheral whole blood or from buffy coat cells using the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0039
Volume/Issue:
Volume 3: Issue 2
Open access
Magnolia Ariza-Nieto Cornell University, Meinig School of Biomedical Engineering, Ithaca, New York, USA
epiWELL, LLC, Ithaca, New York, USA

Search for other papers by Magnolia Ariza-Nieto in
Google Scholar
PubMed Close
,
Joshua B Alley Donald Guthrie Foundation for Education and Research, Guthrie Clinic, Sayre, Pennsylvania, USA

Search for other papers by Joshua B Alley in
Google Scholar
PubMed Close
,
Sanjay Samy Donald Guthrie Foundation for Education and Research, Guthrie Clinic, Sayre, Pennsylvania, USA

Search for other papers by Sanjay Samy in
Google Scholar
PubMed Close
,
Laura Fitzgerald Donald Guthrie Foundation for Education and Research, Guthrie Clinic, Sayre, Pennsylvania, USA

Search for other papers by Laura Fitzgerald in
Google Scholar
PubMed Close
,
Francoise Vermeylen Cornell University, Cornell Statistical Consulting Unit, Ithaca, New York, USA

Search for other papers by Francoise Vermeylen in
Google Scholar
PubMed Close
,
Michael L Shuler Cornell University, Meinig School of Biomedical Engineering, Ithaca, New York, USA

Search for other papers by Michael L Shuler in
Google Scholar
PubMed Close
, and
José O Alemán New York University Langone Medical Center, New York, New York, USA

Search for other papers by José O Alemán in
Google Scholar
PubMed Close

methylation-susceptible CpG islands in their promoter regions, and for that they are known to form regulatory loops with DNMT1 in cancer tissue and cancer cell lines in vitro ( 17 ). In adipocytes, DNMT1 contributes to the expression of adiponectin ( 18

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0205
Volume/Issue:
Volume 7: Issue 9
Open access
Helene Bandsholm Leere Tallaksen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Helene Bandsholm Leere Tallaksen in
Google Scholar
PubMed Close
,
Emma B Johannsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Emma B Johannsen in
Google Scholar
PubMed Close
,
Jesper Just Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Jesper Just in
Google Scholar
PubMed Close
,
Mette Hansen Viuff Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Gynaecology and Obstetrics, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Mette Hansen Viuff in
Google Scholar
PubMed Close
,
Claus H Gravholt Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Claus H Gravholt in
Google Scholar
PubMed Close
, and
Anne Skakkebæk Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Medicine, Aarhus University Hospital, Aarhus, Denmark
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

Search for other papers by Anne Skakkebæk in
Google Scholar
PubMed Close

chromosome abnormalities,’ ‘Turner syndrome,’ ‘Klinefelter syndrome,’ ‘47,XYY,’ and ‘47,XXX’ as search terms in combination with ‘DNA methylation,’ ‘transcriptome profile,’ ‘epigenetics,’ and ‘genomics’. Relevant articles were obtained and reviewed as well as

Article Type:
Review Article
Collections:
Reproduction
DOI:
https://doi.org/10.1530/EC-23-0011
Volume/Issue:
Volume 12: Issue 9
Open access
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

experiment, three independent RNA extractions were assayed with three technical replicates. Methylation analysis of H19 and IGF2 One microgram peripheral leukocyte or fibroblast-derived genomic DNA was treated with bisulphite using the EZ-DNA Methylation kit

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0065
Volume/Issue:
Volume 2: Issue 4
Open access
Danielle Christine Maria van der Kaay Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

Search for other papers by Danielle Christine Maria van der Kaay in
Google Scholar
PubMed Close
,
Anne Rochtus Department of Pediatric Endocrinology, University Hospitals Leuven, Leuven, Belgium

Search for other papers by Anne Rochtus in
Google Scholar
PubMed Close
,
Gerhard Binder University Children’s Hospital, Pediatric Endocrinology, University of Tübingen, Tübingen, Germany

Search for other papers by Gerhard Binder in
Google Scholar
PubMed Close
,
Ingo Kurth Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

Search for other papers by Ingo Kurth in
Google Scholar
PubMed Close
,
Dirk Prawitt Center for Paediatrics and Adolescent Medicine, University Medical Center, Mainz, Germany

Search for other papers by Dirk Prawitt in
Google Scholar
PubMed Close
,
Irène Netchine Sorbonne Université, Centre de Recherche Saint-Antoine, INSERM, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France

Search for other papers by Irène Netchine in
Google Scholar
PubMed Close
,
Gudmundur Johannsson Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
Department of Endocrinology at Sahlgrenska University Hospital, Gothenburg, Sweden

Search for other papers by Gudmundur Johannsson in
Google Scholar
PubMed Close
,
Anita C S Hokken-Koelega Erasmus University Medical Center, Department of Pediatrics, Subdivision of Endocrinology, Rotterdam, Netherlands

Search for other papers by Anita C S Hokken-Koelega in
Google Scholar
PubMed Close
,
Miriam Elbracht Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

Search for other papers by Miriam Elbracht in
Google Scholar
PubMed Close
, and
Thomas Eggermann Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany

Search for other papers by Thomas Eggermann in
Google Scholar
PubMed Close

. AD, autosomal dominant; AR, autosomal recessive; BWS, Beckwith–Wiedemann syndrome; GH, growth hormone; MLPA, multiplex ligation-dependent probe amplification; MS-MLPA, methylation-specific MLPA; NS, Noonan syndrome; SGA, small for gestational age; SNP

Article Type:
Review Article
Collections:
Paediatric Endocrinology
DOI:
https://doi.org/10.1530/EC-22-0277
Volume/Issue:
Volume 11: Issue 11
Open access