Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME)

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations.

Jeanne, M.; Ronce, N.; Remizé, S.; et al.

Journal of Medical Genetics, BMJ Journals, 18-01-2025

Article dans une revue scientifique

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

Fauqueux, Jade; Boussion, Simon; Thuillier, Caroline; et al.

Journal of Medical Genetics, BMJ Publishing Group, 24-08-2024, 61 (11)

Article dans une revue scientifique

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront

Vanlerberghe, Clemence; Frenois, Frederic; Smol, Thomas; et al.

Genetics in Medicine, Nature Publishing Group, 10-09-2024, 26 (12), 101266

Article dans une revue scientifique

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Vanlerberghe, Clemence; Jourdain, Anne-Sophie; Frenois, Frederic; et al.

Genetics in Medicine, Nature Publishing Group, 09-09-2024, 26 (12), 101267

Article dans une revue scientifique

Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading

Tauziède-Espariat, Arnault; Pagès, Mélanie; Roux, Alexandre; et al.

Acta Neuropathologica Communications, BioMed Central part of Springer Science, 10-11-2019, 7, 176

Article dans une revue scientifiquefulltext

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

Chesneau, Bertrand; Ivashchenko, Véronique; Habib, Christophe; et al.

European Journal of Human Genetics, Nature Publishing Group, 21-11-2022, 31, 526–530

Article dans une revue scientifique

Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency

Vamecq, Joseph; Masso, Vincent; Bancel, Leo-Paul; et al.

Biochimie, Elsevier, 21-07-2022, 201, 196-203

Article dans une revue scientifique

Epidemiology of Pediatric Hand Surgery Emergencies. Retrospective Study of 245 Patients Seen over 10 Months in Two Referral Centers

Dizin, Frédérique; Saab, Marc; Mezel, Aurelie; et al.

Orthopaedics & Traumatology: Surgery & Research, Elsevier, 17-09-2021, 108 (1), 103067

Article dans une revue scientifique

Expanding the KIF4A-associated phenotype

Kalantari, Silvia; Carlston, Colleen; Alsaleh, Norah; et al.

American Journal of Medical Genetics Part A, Wiley, 03-08-2021, 185 (12), 3728-3739

Article dans une revue scientifiquefulltext

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Administrative institutions

Recent Submissions

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations.

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency

Epidemiology of Pediatric Hand Surgery Emergencies. Retrospective Study of 245 Patients Seen over 10 Months in Two Referral Centers

Expanding the KIF4A-associated phenotype

Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

Administrative institutions

Recent Submissions

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review ﻿

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations. ﻿

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome ﻿

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront ﻿

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome ﻿

Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading ﻿

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye ﻿

Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency ﻿

Epidemiology of Pediatric Hand Surgery Emergencies. Retrospective Study of 245 Patients Seen over 10 Months in Two Referral Centers ﻿

Expanding the KIF4A-associated phenotype ﻿

The Phenotypic and Genotypic Spectrum of <i>BRPF1</i>-Related Disorder: 29 New Patients and Literature Review

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in <i>FGD1</i> and management recommendations.

Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

Pediatric methylation class HGNET-MN1: unresolved issues with terminology and grading

Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye

Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency

Epidemiology of Pediatric Hand Surgery Emergencies. Retrospective Study of 245 Patients Seen over 10 Months in Two Referral Centers

Expanding the KIF4A-associated phenotype