Search Results

You are looking at 1 - 10 of 836 items for :

  • molecular testing x
Clear All
Dongyan Han Department of Pathology, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

Search for other papers by Dongyan Han in
Google Scholar
PubMed
Close
,
Min Ding Department of General Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Search for other papers by Min Ding in
Google Scholar
PubMed
Close
,
Rongli Xie Department of General Surgery, RuiJin Hospital Lu Wan Branch, Shanghai Jiaotong University School of Medicine, Shanghai, China

Search for other papers by Rongli Xie in
Google Scholar
PubMed
Close
,
Zhengshi Wang Thyroid Center, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

Search for other papers by Zhengshi Wang in
Google Scholar
PubMed
Close
,
Guohui Xiao Department of General Surgery, Pancreatic Disease Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Search for other papers by Guohui Xiao in
Google Scholar
PubMed
Close
,
Xiaohong Wang Shanghai Rigen Biotechnology Co., Ltd. Shanghai, China

Search for other papers by Xiaohong Wang in
Google Scholar
PubMed
Close
,
Lei Dong Department of Pathology, Shanghai Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Search for other papers by Lei Dong in
Google Scholar
PubMed
Close
,
Zhiqiang Yin Thyroid Center, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China
Shanghai Center of Thyroid Diseases, Shanghai Tenth People’s Hospital, Tongji University School of Medicine, Shanghai, China

Search for other papers by Zhiqiang Yin in
Google Scholar
PubMed
Close
, and
Jian Fei Department of General Surgery, Pancreatic Disease Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
Research Institute of Pancreatic Diseases, Shanghai Jiao Tong University School of Medicine, Shanghai, China
State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Shanghai Jiao Tong University, Shanghai, China
Institute of Translational Medicine, Shanghai Jiao Tong University, Shanghai, China

Search for other papers by Jian Fei in
Google Scholar
PubMed
Close

for FNAB with undetermined features in thyroid cancer. A multi-gene test panel allows the simultaneous detection of hundreds of genes, providing insight into the molecular mechanisms of disease formation while helping stratify management for patients

Open access
Irfan Vardarli 5th Medical Department, Division of Endocrinology and Diabetes, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany

Search for other papers by Irfan Vardarli in
Google Scholar
PubMed
Close
,
Susanne Tan Department of Endocrinology, Diabetes and Metabolism, Clinical Chemistry – Division of Laboratory Research Endocrine Tumor Center at WTZ/Comprehensive Cancer Center, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

Search for other papers by Susanne Tan in
Google Scholar
PubMed
Close
,
Rainer Görges Department of Nuclear Medicine, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

Search for other papers by Rainer Görges in
Google Scholar
PubMed
Close
,
Bernhard K Krämer 5th Medical Department, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany

Search for other papers by Bernhard K Krämer in
Google Scholar
PubMed
Close
,
Ken Herrmann Department of Nuclear Medicine, University Hospital Essen, University of Duisburg-Essen, Essen, Germany

Search for other papers by Ken Herrmann in
Google Scholar
PubMed
Close
, and
Christoph Brochhausen Institue of Pathology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany

Search for other papers by Christoph Brochhausen in
Google Scholar
PubMed
Close

, there is a need to avoid unnecessary thyroid surgery. The guidelines recommend the use of molecular tests for further management of thyroid nodules with indeterminate cytology (ITN); however, for the choice of the suitable method and the interpretation

Open access
L A Hughes West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by L A Hughes in
Google Scholar
PubMed
Close
,
K McKay-Bounford West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by K McKay-Bounford in
Google Scholar
PubMed
Close
,
E A Webb Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by E A Webb in
Google Scholar
PubMed
Close
,
P Dasani West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by P Dasani in
Google Scholar
PubMed
Close
,
S Clokie West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by S Clokie in
Google Scholar
PubMed
Close
,
H Chandran Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by H Chandran in
Google Scholar
PubMed
Close
,
L McCarthy Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by L McCarthy in
Google Scholar
PubMed
Close
,
Z Mohamed Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by Z Mohamed in
Google Scholar
PubMed
Close
,
J M W Kirk Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by J M W Kirk in
Google Scholar
PubMed
Close
,
N P Krone Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by N P Krone in
Google Scholar
PubMed
Close
,
S Allen West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by S Allen in
Google Scholar
PubMed
Close
, and
T R P Cole West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by T R P Cole in
Google Scholar
PubMed
Close

, gastric motility issues, undescended testes, adrenal insufficiency CBX2 c.1411C>G p.(Pro471Ala) V Normal a A molecular diagnosis has not been confirmed. #Variant found in alternative transcript CBX2# c.616C>T p.(Gln206*) V Normal a

Open access
Klaudia Zajkowska Endocrinology, Holycross Cancer Centre, Kielce, Poland

Search for other papers by Klaudia Zajkowska in
Google Scholar
PubMed
Close
,
Janusz Kopczyński Surgical Pathology, Holycross Cancer Centre, Kielce, Poland

Search for other papers by Janusz Kopczyński in
Google Scholar
PubMed
Close
,
Stanisław Góźdź Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland

Search for other papers by Stanisław Góźdź in
Google Scholar
PubMed
Close
, and
Aldona Kowalska Endocrinology, Holycross Cancer Centre, Kielce, Poland
Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland

Search for other papers by Aldona Kowalska in
Google Scholar
PubMed
Close

tumour should be examined to exclude the presence of papillary structures. In addition, secondary criteria (molecular testing for BRAF V600E and other high-risk mutations and immunohistochemistry for BRAF V600E) were added that may be helpful but are

Open access
Luigi Laino Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Luigi Laino in
Google Scholar
PubMed
Close
,
Silvia Majore Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Silvia Majore in
Google Scholar
PubMed
Close
,
Nicoletta Preziosi Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Nicoletta Preziosi in
Google Scholar
PubMed
Close
,
Barbara Grammatico Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Barbara Grammatico in
Google Scholar
PubMed
Close
,
Carmelilia De Bernardo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Carmelilia De Bernardo in
Google Scholar
PubMed
Close
,
Salvatore Scommegna Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Salvatore Scommegna in
Google Scholar
PubMed
Close
,
Anna Maria Rapone Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Anna Maria Rapone in
Google Scholar
PubMed
Close
,
Giacinto Marrocco Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Giacinto Marrocco in
Google Scholar
PubMed
Close
,
Irene Bottillo Department of Molecular Medicine, Department of Pediatrics and Hematology, Psychology Department, Department of Pediatric Surgery, Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University, A.O. San Camillo-Forlanini, Padiglione Morgagni, I piano, UOC Laboratorio di Genetica Medica, Circonvallazione Gianicolense 87, Rome 00152, Italy

Search for other papers by Irene Bottillo in
Google Scholar
PubMed
Close
, and
Paola Grammatico
Search for other papers by Paola Grammatico in
Google Scholar
PubMed
Close

clinical classes and genetic tests performed are listed on the y -axis. For each molecular analysis, the number of positive (mutated) and negative (not mutated) patients is symbolized by gray bars. SRY +/−, SRY presence/absence test; MLPA Intersex: MLPA

Open access
E Kohva Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

Search for other papers by E Kohva in
Google Scholar
PubMed
Close
,
P J Miettinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Search for other papers by P J Miettinen in
Google Scholar
PubMed
Close
,
S Taskinen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Department of Pediatric Surgery, Children’s Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Search for other papers by S Taskinen in
Google Scholar
PubMed
Close
,
M Hero Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

Search for other papers by M Hero in
Google Scholar
PubMed
Close
,
A Tarkkanen Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

Search for other papers by A Tarkkanen in
Google Scholar
PubMed
Close
, and
T Raivio Children’s Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Faculty of Medicine, Department of Physiology, University of Helsinki, Helsinki, Finland

Search for other papers by T Raivio in
Google Scholar
PubMed
Close

multifaceted and can be caused by genetic and environmental factors; especially, hypospadias and undescended testes have been linked to the actions of environmental agents ( 3 ). A family history with genital abnormalities, delayed puberty, infertility

Open access
Estelle Bonnet Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France

Search for other papers by Estelle Bonnet in
Google Scholar
PubMed
Close
,
Mathias Winter Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de psychopathologie du développement, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

Search for other papers by Mathias Winter in
Google Scholar
PubMed
Close
,
Delphine Mallet Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de biologie et pathologie Est, Service d’hormonologie, d’endocrinologie moléculaire et des maladies rares, Bron, France

Search for other papers by Delphine Mallet in
Google Scholar
PubMed
Close
,
Ingrid Plotton Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service Endocrinologie Moléculaire et Maladies Rares, Bron, France

Search for other papers by Ingrid Plotton in
Google Scholar
PubMed
Close
,
Claire Bouvattier Centre Hospitalier Universitaire AP-HP, Hôpital Bicêtre, Service d’endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

Search for other papers by Claire Bouvattier in
Google Scholar
PubMed
Close
,
Maryse Cartigny Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Unité d’Endocrinologie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

Search for other papers by Maryse Cartigny in
Google Scholar
PubMed
Close
,
Laetiti Martinerie Centre Hospitalier Universitaire AP-HP, Hôpital Robert Debré, Service d’Endocrinologie pédiatrique Centre de Référence des Maladies Rares Endocriniennes de la Croissance et du Développement – CRMERC Université de Paris, Paris, France

Search for other papers by Laetiti Martinerie in
Google Scholar
PubMed
Close
,
Michel Polak Centre Hospitalier Universitaire AP-HP, Hôpital universitaire Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement Inserm U1016, institut Imagine, Paris, France

Search for other papers by Michel Polak in
Google Scholar
PubMed
Close
,
Anne Bachelot Centre Hospitalier Universitaire AP-HP, Hôpital Pitié Salpêtrière, Department of Endocrinology and Reproductive Medicine Centre de Référence des Maladies Endocriniennes Rares de la Croissance et du Développement Centre de Référence des pathologies gynécologiques rares IE3M, Paris, France

Search for other papers by Anne Bachelot in
Google Scholar
PubMed
Close
,
Frédéric Huet Centre Hospitalier Universitaire Dijon-Bourgogne, Hôpital d’Enfants, Service de Pédiatrie Multidisciplinaire, Dijon, France

Search for other papers by Frédéric Huet in
Google Scholar
PubMed
Close
,
Sabine Baron Centre Hospitalier universitaire de Nantes, Hôpital Mère-Enfant, Service de Pédiatrie, Nantes, France

Search for other papers by Sabine Baron in
Google Scholar
PubMed
Close
,
Muriel Houang Centre Hospitalier Universitaire AP-HP, Hôpital Armand Trousseau, Service d'Explorations Fonctionnelles Endocriniennes, Paris, France

Search for other papers by Muriel Houang in
Google Scholar
PubMed
Close
,
Sylvie Soskin Hôpitaux Universitaires de Strasbourg, CHU Hautepierre, Service de Pédiatrie 1, Strasbourg, France

Search for other papers by Sylvie Soskin in
Google Scholar
PubMed
Close
,
Anne Lienhardt Centre hospitalier universitaire Limoges, Hôpital de la Mère et de l’enfant, Service de Pédiatrie, Limoges, France

Search for other papers by Anne Lienhardt in
Google Scholar
PubMed
Close
,
Jérôme Bertherat Groupement Hospitalier Universitaire de Paris, AP-HP, Hôpital Cochin, Service d'Endocrinologie, Paris, France

Search for other papers by Jérôme Bertherat in
Google Scholar
PubMed
Close
,
Cyril Amouroux Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

Search for other papers by Cyril Amouroux in
Google Scholar
PubMed
Close
,
Aurore Bouty Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

Search for other papers by Aurore Bouty in
Google Scholar
PubMed
Close
,
Lise Duranteau AP-HP, Hôpital Bicêtre, Unité de gynécologie de l’adolescente Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN Université Paris Saclay, Le Kremlin-Bicêtre, France

Search for other papers by Lise Duranteau in
Google Scholar
PubMed
Close
,
Rémi Besson Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de chirurgie pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

Search for other papers by Rémi Besson in
Google Scholar
PubMed
Close
,
Alaa El Ghoneimi Centre Hospitalier Universitaire AP-HP Robert Debré, Service de Chirurgie Viscérale et Urologie pédiatrique Centre de Référence des Maladies Endocriniennes de la croissance et du développement – CRMERC Université de Paris, Paris, France

Search for other papers by Alaa El Ghoneimi in
Google Scholar
PubMed
Close
,
Dinane Samara-Boustani Centre Hospitalier Universitaire AP-HP, Hôpital Necker Enfants malades, Endocrinologie gynécologie diabétologie pédiatriques Centre de référence des maladies endocriniennes rares de la croissance et du développement, Paris, France

Search for other papers by Dinane Samara-Boustani in
Google Scholar
PubMed
Close
,
François Becmeur Hospitaux Universitaires de Strasbourg, CHU Hautepierre, Service de chirurgie pédiatrique, Strasbourg, France

Search for other papers by François Becmeur in
Google Scholar
PubMed
Close
,
Nicolas Kalfa Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Chirurgie Viscérale et Urologie Pédiatrique Centre National de Référence Maladies Rares du Développement Génital Constitutif Sud Institut Debrest de Santé Publique IDESP, UMR INSERM, Université de Montpellier, Montpellier, France

Search for other papers by Nicolas Kalfa in
Google Scholar
PubMed
Close
,
Françoise Paris Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Service de Néphrologie et Endocrinologie Pédiatrique Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Montpellier, France

Search for other papers by Françoise Paris in
Google Scholar
PubMed
Close
,
François Medjkane Centre Hospitalier Régional Universitaire Lille, Hôpital Jeanne de Flandre, Service de psychiatrie de l’enfant et de l’adolescent Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Lille, France

Search for other papers by François Medjkane in
Google Scholar
PubMed
Close
,
Aude Brac de la Perrière Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Groupement Hospitalier Est, Service d’endocrinologie, Bron, France

Search for other papers by Aude Brac de la Perrière in
Google Scholar
PubMed
Close
,
Patricia Bretones Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

Search for other papers by Patricia Bretones in
Google Scholar
PubMed
Close
,
Hervé Lejeune Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de médecine de la reproduction, Bron, France
Université Claude Bernard, Lyon, France

Search for other papers by Hervé Lejeune in
Google Scholar
PubMed
Close
,
Marc Nicolino Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Université Claude Bernard, Lyon, France

Search for other papers by Marc Nicolino in
Google Scholar
PubMed
Close
,
Pierre Mouriquand Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France
Université Claude Bernard, Lyon, France

Search for other papers by Pierre Mouriquand in
Google Scholar
PubMed
Close
,
Daniela-Brindusa Gorduza Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France
Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service de chirurgie Uro-viscérale et de Transplantation de l’Enfant, Bron, France

Search for other papers by Daniela-Brindusa Gorduza in
Google Scholar
PubMed
Close
, and
Claire-Lise Gay Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Service d’endocrinologie pédiatrique, Bron, France
Centre National de Référence Maladies Rares du développement génital du fœtus à l’adulte DEV-GEN, Hospices Civils de Lyon, Bron, France

Search for other papers by Claire-Lise Gay in
Google Scholar
PubMed
Close

determination of the testosterone/DHT ratio (elevated at baseline and/or after human chorionic gonadotrophin (hCG) stimulation test in SRD5A2 deficiency) and of the testosterone/androstenedione ratio (low at baseline and after hCG stimulation test in HSD17B3

Open access
Jordyn Silverstein Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA

Search for other papers by Jordyn Silverstein in
Google Scholar
PubMed
Close
,
Wesley Kidder Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA
Division of Hematology and Oncology, Department of Medicine, University of California, San Francisco, California, USA

Search for other papers by Wesley Kidder in
Google Scholar
PubMed
Close
,
Susan Fisher Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, California, USA

Search for other papers by Susan Fisher in
Google Scholar
PubMed
Close
,
Thomas A Hope Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA
Department of Radiology and Biomedical Imaging, University of California, San Francisco, California, USA

Search for other papers by Thomas A Hope in
Google Scholar
PubMed
Close
,
Samantha Maisel Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA

Search for other papers by Samantha Maisel in
Google Scholar
PubMed
Close
,
Dianna Ng Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA
Department of Pathology, University of California, San Francisco, California, USA

Search for other papers by Dianna Ng in
Google Scholar
PubMed
Close
,
Jessica Van Ziffle Department of Pathology, University of California, San Francisco, California, USA

Search for other papers by Jessica Van Ziffle in
Google Scholar
PubMed
Close
,
Chloe E Atreya Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA
Division of Hematology and Oncology, Department of Medicine, University of California, San Francisco, California, USA

Search for other papers by Chloe E Atreya in
Google Scholar
PubMed
Close
, and
Katherine Van Loon Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, California, USA
Division of Hematology and Oncology, Department of Medicine, University of California, San Francisco, California, USA

Search for other papers by Katherine Van Loon in
Google Scholar
PubMed
Close

mode of presentation, outcomes of the mother and fetus and treatment decisions ( 18 ). None of these prior studies have evaluated relevant factors of disease biology or molecular features of the tumors. Following our observation of five women who

Open access
Florian W Kiefer Clinical Division of Endocrinology and Metabolism, Department of Medicine III, Medical University of Vienna, Vienna, Austria

Search for other papers by Florian W Kiefer in
Google Scholar
PubMed
Close

molecular mechanisms that are responsible for the energy-dissipating qualities of brown fat have been studied in detail ( 4 , 5 ). Uncoupling protein-1 (UCP-1) has been identified as the key factor controlling the thermogenic capacity of brown adipocytes

Open access
Anello Marcello Poma Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

Search for other papers by Anello Marcello Poma in
Google Scholar
PubMed
Close
,
Riccardo Giannini Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

Search for other papers by Riccardo Giannini in
Google Scholar
PubMed
Close
,
Paolo Piaggi National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Phoenix, Arizona, USA

Search for other papers by Paolo Piaggi in
Google Scholar
PubMed
Close
,
Clara Ugolini Department of Laboratory Medicine, Section of Pathology, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy

Search for other papers by Clara Ugolini in
Google Scholar
PubMed
Close
,
Gabriele Materazzi Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

Search for other papers by Gabriele Materazzi in
Google Scholar
PubMed
Close
,
Paolo Miccoli Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

Search for other papers by Paolo Miccoli in
Google Scholar
PubMed
Close
,
Paolo Vitti Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy

Search for other papers by Paolo Vitti in
Google Scholar
PubMed
Close
, and
Fulvio Basolo Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy

Search for other papers by Fulvio Basolo in
Google Scholar
PubMed
Close

-0288 20668010 25 Nikiforov YE Steward DL Robinson-Smith TM Haugen BR Klopper JP Zhu Z Fagin JA Falciglia M Weber K Nikiforova MN. Molecular testing for mutations in improving the fine-needle aspiration diagnosis of

Open access