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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
- Published in:
- Clinical Genetics, 2024, v. 105, n. 5, p. 555, doi. 10.1111/cge.14485
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- Article
Subcutaneous anakinra in the management of refractory MIS-C in France.
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- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1270878
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- Article
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study.
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- European Journal of Neurology, 2023, v. 30, n. 9, p. 2828, doi. 10.1111/ene.15894
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- Article
Real-World Long-Term Ivacaftor for Cystic Fibrosis in France: Clinical Effectiveness and Healthcare Resource Utilization.
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- Pulmonary Therapy, 2021, v. 7, n. 2, p. 455, doi. 10.1007/s41030-021-00158-5
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- Article
Dépistage néonatal de la mucoviscidose.
- Published in:
- Médecine Sciences, 2021, v. 37, n. 5, p. 491, doi. 10.1051/medsci/2021051
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- Article
Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1756, doi. 10.1002/ajmg.a.61273
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- Article
Toward the Standardization of Mycological Examination of Sputum Samples in Cystic Fibrosis: Results from a French Multicenter Prospective Study.
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- Mycopathologia, 2018, v. 183, n. 1, p. 101, doi. 10.1007/s11046-017-0173-1
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- Article
Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 62, doi. 10.1002/ajmg.a.37969
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- Article
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2103, doi. 10.1002/ajmg.a.37765
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- Article
Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood.
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- European Neurology, 2015, v. 73, n. 1/2, p. 119, doi. 10.1159/000369454
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- Article
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3027, doi. 10.1002/ajmg.a.36751
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- Publication type:
- Article
Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1537, doi. 10.1002/ajmg.a.36471
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- Publication type:
- Article
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 776, doi. 10.1038/ejhg.2013.243
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- Article
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 789, doi. 10.1002/ajmg.a.36348
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- Article
Diversity of the clinical presentation of the MMR gene biallelic mutations.
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- Familial Cancer, 2014, v. 13, n. 1, p. 131, doi. 10.1007/s10689-013-9676-1
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- Article
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS 13 B mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 522, doi. 10.1002/ajmg.a.36300
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- Article
Self-Controlled Case Series and Misclassification Bias Induced by Case Selection From Administrative Hospital Databases: Application to Febrile Convulsions in Pediatric Vaccine Pharmacoepidemiology.
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- American Journal of Epidemiology, 2013, v. 178, n. 12, p. 1731, doi. 10.1093/aje/kwt207
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- Article
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
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- Article
Additional evidence to support the role of the 20q13.33 region in susceptibility to autism.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1505, doi. 10.1002/ajmg.a.35878
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- Article
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 333, doi. 10.1002/ajmg.a.34401
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- Article
Cerebral dysgenesis does not exclude OFD I syndrome.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 455, doi. 10.1002/ajmg.a.33812
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- Article
De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 126, doi. 10.1002/ajmg.a.33809
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- Publication type:
- Article
Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport.
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- American Journal of Respiratory & Critical Care Medicine, 2010, v. 182, n. 7, p. 929, doi. 10.1164/rccm.201003-0382OC
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- Publication type:
- Article
Human metapneumovirus genotypes and severity of disease in young children (n = 100) during a 7-year study in Dijon hospital, France.
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- Journal of Medical Virology, 2010, v. 82, n. 10, p. 1782, doi. 10.1002/jmv.21884
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- Article
Impact of community-acquired paediatricrotavirus gastroenteritis on family life:data from the REVEAL study.
- Published in:
- BMC Family Practice, 2010, v. 11, p. 22, doi. 10.1186/1471-2296-11-22
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- Publication type:
- Article
Contribution of three-dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease).
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 9, p. 892, doi. 10.1002/pd.2302
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- Publication type:
- Article
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E320, doi. 10.1002/humu.20888
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- Article
Fourth case of uterine aplasia, ovarian dysgenesis, amenorrhea and impuberism: a variant of Mayer-Rokitansky-Kuster-Hauser syndrome.
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- 2007
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- Publication type:
- Letter
Multicenter Prospective Study of the Burden of Rotavirus Acute Gastroenteritis in Europe, 2004-2005: The REVEAL Study.
- Published in:
- Journal of Infectious Diseases, 2007, v. 195, p. S4, doi. 10.1086/516714
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- Publication type:
- Article
Clinical Consequences of Rotavirus Acute Gastroenteritis in Europe, 2004-2005: The REVEAL Study.
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- Journal of Infectious Diseases, 2007, v. 195, p. S26, doi. 10.1086/516717
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- Publication type:
- Article
Costs of Community-Acquired Pediatric Rotavirus Gastroenteritis in 7 European Countries: The REVEAL Study.
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- Journal of Infectious Diseases, 2007, v. 195, p. S36, doi. 10.1086/516716
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- Publication type:
- Article
Palivizumab efficacy in preterm infants with gestational age ≤30 weeks without bronchopulmonary dysplasia.
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- Pediatric Pulmonology, 2007, v. 42, n. 3, p. 189, doi. 10.1002/ppul.20503
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- Article
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders.
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- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1151, doi. 10.1002/pd.1576
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- Article
The CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening.
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- BMC Pediatrics, 2006, v. 6, p. 25, doi. 10.1186/1471-2431-6-25
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- Publication type:
- Article
Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.
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- European Journal of Human Genetics, 2005, v. 13, n. 11, p. 1186, doi. 10.1038/sj.ejhg.5201480
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- Article
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
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- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 393, doi. 10.1002/pd.891
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- Publication type:
- Article
Long-term results of GH therapy in GH-deficient children treated before 1 year of age.
- Published in:
- European Journal of Endocrinology, 1999, v. 140, n. 1, p. 29, doi. 10.1530/eje.0.1400029
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- Article