Search Results
Martin Bidlingmaier
Martin Bidlingmaier
Medizinische Klinik und Poliklinik IV, LMU Klinikum, Ludwig-Maximilians University, Munich, Germany
Search for other papers by Martin Bidlingmaier in
Google Scholar
PubMed
Search for other papers by Martin Bidlingmaier in
Google Scholar
PubMed
Helena Gleeson
Helena Gleeson
Department of Endocrinology, Queen Elizabeth Hospital, Birmingham, UK
Search for other papers by Helena Gleeson in
Google Scholar
PubMed
Search for other papers by Helena Gleeson in
Google Scholar
PubMed
Ana-Claudia Latronico
Ana-Claudia Latronico
Department of Internal Medicine, Discipline of Endocrinology and Metabolism, Sao Paulo Medical School, University of Sao Paulo, Sao Paulo, Brazil
Search for other papers by Ana-Claudia Latronico in
Google Scholar
PubMed
Search for other papers by Ana-Claudia Latronico in
Google Scholar
PubMed
Martin O Savage
Martin O Savage
Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
Search for other papers by Martin O Savage in
Google Scholar
PubMed
Search for other papers by Martin O Savage in
Google Scholar
PubMed
MKRN3 mutations in familial cases of CPP, genetic testing is being increasingly used in the clinical investigation of the disorder (see Fig. 2 ). In familial cases, genetic tests could precede brain MRI, with such imaging potentially being delayed or
Claire L Wood
Claire L Wood
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Search for other papers by Claire L Wood in
Google Scholar
PubMed
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Search for other papers by Claire L Wood in
Google Scholar
PubMed
Kieren G Hollingsworth
Kieren G Hollingsworth
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Search for other papers by Kieren G Hollingsworth in
Google Scholar
PubMed
Search for other papers by Kieren G Hollingsworth in
Google Scholar
PubMed
Edrina Bokaie
Edrina Bokaie
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Search for other papers by Edrina Bokaie in
Google Scholar
PubMed
Search for other papers by Edrina Bokaie in
Google Scholar
PubMed
Eric Hughes
Eric Hughes
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Search for other papers by Eric Hughes in
Google Scholar
PubMed
Search for other papers by Eric Hughes in
Google Scholar
PubMed
Robert Muni-Lofra
Robert Muni-Lofra
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Robert Muni-Lofra in
Google Scholar
PubMed
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Robert Muni-Lofra in
Google Scholar
PubMed
Anna Mayhew
Anna Mayhew
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Anna Mayhew in
Google Scholar
PubMed
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Anna Mayhew in
Google Scholar
PubMed
Rod T Mitchell
Rod T Mitchell
MRC Centre for Reproductive Health, The University of Edinburgh, Queens Medical Research Institute, Edinburgh, UK
Search for other papers by Rod T Mitchell in
Google Scholar
PubMed
Search for other papers by Rod T Mitchell in
Google Scholar
PubMed
Michela Guglieri
Michela Guglieri
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Michela Guglieri in
Google Scholar
PubMed
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Michela Guglieri in
Google Scholar
PubMed
Joseph McElvaney
Joseph McElvaney
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Search for other papers by Joseph McElvaney in
Google Scholar
PubMed
Search for other papers by Joseph McElvaney in
Google Scholar
PubMed
Timothy D Cheetham
Timothy D Cheetham
Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Search for other papers by Timothy D Cheetham in
Google Scholar
PubMed
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
Search for other papers by Timothy D Cheetham in
Google Scholar
PubMed
Volker Straub
Volker Straub
Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Volker Straub in
Google Scholar
PubMed
John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK
Search for other papers by Volker Straub in
Google Scholar
PubMed
left wrist) Muscle cross-sectional area (CSA), contractile cross-sectional area (cCSA), fat fraction (FF), and T2 relaxation time (upper limb only) determined by muscle MRI of upper and lower limbs, motor performance evaluated using North Star
Sommayya Aftab
Sommayya Aftab
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Sommayya Aftab in
Google Scholar
PubMed
Search for other papers by Sommayya Aftab in
Google Scholar
PubMed
Diliara Gubaeva
Diliara Gubaeva
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Diliara Gubaeva in
Google Scholar
PubMed
Search for other papers by Diliara Gubaeva in
Google Scholar
PubMed
Jayne A L Houghton
Jayne A L Houghton
The Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK
Search for other papers by Jayne A L Houghton in
Google Scholar
PubMed
Search for other papers by Jayne A L Houghton in
Google Scholar
PubMed
Antonia Dastamani
Antonia Dastamani
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Antonia Dastamani in
Google Scholar
PubMed
Search for other papers by Antonia Dastamani in
Google Scholar
PubMed
Ellada Sotiridou
Ellada Sotiridou
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Ellada Sotiridou in
Google Scholar
PubMed
Search for other papers by Ellada Sotiridou in
Google Scholar
PubMed
Clare Gilbert
Clare Gilbert
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Clare Gilbert in
Google Scholar
PubMed
Search for other papers by Clare Gilbert in
Google Scholar
PubMed
Sarah E Flanagan
Sarah E Flanagan
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK
Search for other papers by Sarah E Flanagan in
Google Scholar
PubMed
Search for other papers by Sarah E Flanagan in
Google Scholar
PubMed
Anatoly Tiulpakov
Anatoly Tiulpakov
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Anatoly Tiulpakov in
Google Scholar
PubMed
Search for other papers by Anatoly Tiulpakov in
Google Scholar
PubMed
Maria Melikyan
Maria Melikyan
Department of Paediatric Endocrinology, Endocrinology Research Centre, Moscow, Russia
Search for other papers by Maria Melikyan in
Google Scholar
PubMed
Search for other papers by Maria Melikyan in
Google Scholar
PubMed
Pratik Shah
Pratik Shah
Department of Paediatric Endocrinology, Great Ormond Street Hospital, London, UK
Search for other papers by Pratik Shah in
Google Scholar
PubMed
Search for other papers by Pratik Shah in
Google Scholar
PubMed
paediatrician as per local protocol were performed in every case. Of the 25 genetically confirmed cases of HI/HA, electroencephalography (EEG) was performed in 14/25 cases and MRI brain was performed in 12/25 cases. A spectrum of neurological disorders was
Mireille N M van Poppel
Mireille N M van Poppel
Institute of Human Movement Sciences, Sport and Health, University of Graz, Graz, Austria
Search for other papers by Mireille N M van Poppel in
Google Scholar
PubMed
Search for other papers by Mireille N M van Poppel in
Google Scholar
PubMed
Christopher J Nolan
Christopher J Nolan
Department of Endocrinology at The Canberra Hospital and the Australian National University School of Medicine and Psychology, Canberra, ACT, Australia
Search for other papers by Christopher J Nolan in
Google Scholar
PubMed
Search for other papers by Christopher J Nolan in
Google Scholar
PubMed
Gernot Desoye
Gernot Desoye
Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria
Search for other papers by Gernot Desoye in
Google Scholar
PubMed
Search for other papers by Gernot Desoye in
Google Scholar
PubMed
et al. ( 25 ) F 34 Yes 1570 (5.58) 41 (2.88) 31.6 (65.73) MRI No mutation found in chromosome 6, KCNJ11, ABCC8, IPF1, PTF1A, HNF1beta Yes Diaphragmatic hernia Baumeister et al. ( 20 ) F 32 Yes 1010 (0.58) 36 (1
A Bergougnoux
A Bergougnoux
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Search for other papers by A Bergougnoux in
Google Scholar
PubMed
Search for other papers by A Bergougnoux in
Google Scholar
PubMed
L Gaspari
L Gaspari
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by L Gaspari in
Google Scholar
PubMed
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by L Gaspari in
Google Scholar
PubMed
M Soleirol
M Soleirol
Département de Pediatrie, CHU Nîmes, France, Université de Montpellier Faculté de Médecine Montpellier-Nîmes, Montpellier, France
Search for other papers by M Soleirol in
Google Scholar
PubMed
Search for other papers by M Soleirol in
Google Scholar
PubMed
N Servant
N Servant
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Search for other papers by N Servant in
Google Scholar
PubMed
Search for other papers by N Servant in
Google Scholar
PubMed
S Soskin
S Soskin
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
Search for other papers by S Soskin in
Google Scholar
PubMed
Search for other papers by S Soskin in
Google Scholar
PubMed
S Rossignol
S Rossignol
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
Search for other papers by S Rossignol in
Google Scholar
PubMed
Search for other papers by S Rossignol in
Google Scholar
PubMed
K Wagner-Mahler
K Wagner-Mahler
Département de Pédiatrie, CHU Nice, Hôpitaux Pédiatriques de Nice CHU-Lenval, Nice, France
Search for other papers by K Wagner-Mahler in
Google Scholar
PubMed
Search for other papers by K Wagner-Mahler in
Google Scholar
PubMed
J Bertherat
J Bertherat
Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Université Paris Cité, Institut Cochin, Assitance Publique-Hôpitaux de Paris, Paris, France
Search for other papers by J Bertherat in
Google Scholar
PubMed
Search for other papers by J Bertherat in
Google Scholar
PubMed
C Sultan
C Sultan
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
Search for other papers by C Sultan in
Google Scholar
PubMed
Search for other papers by C Sultan in
Google Scholar
PubMed
N Kalfa
N Kalfa
Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France
Search for other papers by N Kalfa in
Google Scholar
PubMed
Search for other papers by N Kalfa in
Google Scholar
PubMed
F Paris
F Paris
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by F Paris in
Google Scholar
PubMed
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by F Paris in
Google Scholar
PubMed
46,XY. MRI showed the presence of a Müllerian duct remnant of 27 mm × 15 mm not visible on ultrasonography. Surgery was performed to remove the gonads due to testicular dysgenesis highlighted by the hormonal workup. The anatomopathological study
Wolfgang Högler
Wolfgang Högler
Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Search for other papers by Wolfgang Högler in
Google Scholar
PubMed
Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK
Search for other papers by Wolfgang Högler in
Google Scholar
PubMed
Agnès Linglart
Agnès Linglart
AP-HP, Hôpital Bicêtre Paris Saclay, service d’endocrinologie et diabète de l’enfant, DMU 3 SEA, centre de référence des maladies rares du métabolisme du calcium et du phosphate, filière OSCAR; Université de Paris-Saclay INSERM U1185, Hôpital Bicêtre, Le Kremlin-Bicêtre, France
Search for other papers by Agnès Linglart in
Google Scholar
PubMed
Search for other papers by Agnès Linglart in
Google Scholar
PubMed
Anna Petryk
Anna Petryk
Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA
Search for other papers by Anna Petryk in
Google Scholar
PubMed
Search for other papers by Anna Petryk in
Google Scholar
PubMed
Priya S Kishnani
Priya S Kishnani
Duke University Medical Center, Durham, North Carolina, USA
Search for other papers by Priya S Kishnani in
Google Scholar
PubMed
Search for other papers by Priya S Kishnani in
Google Scholar
PubMed
Lothar Seefried
Lothar Seefried
University of Würzburg, Würzburg, Germany
Search for other papers by Lothar Seefried in
Google Scholar
PubMed
Search for other papers by Lothar Seefried in
Google Scholar
PubMed
Shona Fang
Shona Fang
Alexion, AstraZeneca Rare Disease, Boston, Massachusetts, USA
Search for other papers by Shona Fang in
Google Scholar
PubMed
Search for other papers by Shona Fang in
Google Scholar
PubMed
Cheryl Rockman-Greenberg
Cheryl Rockman-Greenberg
University of Manitoba, Winnipeg, Manitoba, Canada
Search for other papers by Cheryl Rockman-Greenberg in
Google Scholar
PubMed
Search for other papers by Cheryl Rockman-Greenberg in
Google Scholar
PubMed
Keiichi Ozono
Keiichi Ozono
Osaka University, Suita, Osaka, Japan
Search for other papers by Keiichi Ozono in
Google Scholar
PubMed
Search for other papers by Keiichi Ozono in
Google Scholar
PubMed
Kathryn Dahir
Kathryn Dahir
Vanderbilt University Medical Center, Nashville, Tennessee, USA
Search for other papers by Kathryn Dahir in
Google Scholar
PubMed
Search for other papers by Kathryn Dahir in
Google Scholar
PubMed
Gabriel Ángel Martos-Moreno
Gabriel Ángel Martos-Moreno
Departments of Pediatrics and Pediatric Endocrinology Hospital Infantil Universitario Niño Jesús, IIS La Princesa, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, Spain
Search for other papers by Gabriel Ángel Martos-Moreno in
Google Scholar
PubMed
Search for other papers by Gabriel Ángel Martos-Moreno in
Google Scholar
PubMed
childhood hypophosphatasia . Child’s Nervous System 2009 25 217 – 223 . ( https://doi.org/10.1007/s00381-008-0708-3 ) 15 Beck C Morbach H Wirth C Beer M & Girschick HJ . Whole-body MRI in the childhood form of hypophosphatasia . Rheumatology
Rebeca Esquivel-Zuniga
Rebeca Esquivel-Zuniga
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
Search for other papers by Rebeca Esquivel-Zuniga in
Google Scholar
PubMed
Search for other papers by Rebeca Esquivel-Zuniga in
Google Scholar
PubMed
Alan D Rogol
Alan D Rogol
Department of Pediatrics, University of Virginia, Charlottesville, Virginia, USA
Search for other papers by Alan D Rogol in
Google Scholar
PubMed
Search for other papers by Alan D Rogol in
Google Scholar
PubMed
, growth hormone; GI, gastrointestinal; GnRH, gonadotropin-releasing hormone; hCG, human chorionic gonadotropin; IGF-1, insulin-like growth factor 1; LH, luteinizing hormone; MRI, magnetic resonance imaging ( 3 ). From New England Journal of Medicine
