Detalhe da pesquisa
1.
DISP1 deficiency: monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genet Med
; : 101126, 2024 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38529886
2.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38421086
3.
Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series.
J Inherit Metab Dis
; 47(2): 255-269, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38012812
4.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
J Med Genet
; 60(6): 620-626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36368868
5.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586840
6.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med
; 25(9): 100883, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154149
7.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clin Genet
; 101(5-6): 494-506, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170016
8.
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Hum Mutat
; 40(6): 765-787, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30825406
9.
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
Am J Hum Genet
; 99(3): 753-761, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569547
10.
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.
J Med Genet
; 55(6): 359-371, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29618507
11.
Hemizygous FGG p.Ala108Gly in a hypofibrinogenemic patient with a heterozygous 14.8 Mb deletion encompassing the entire fibrinogen gene cluster.
Haemophilia
; 28(5): e132-e135, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35809055
12.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
13.
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor.
Clin Genet
; 100(3): 348-349, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114225
14.
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.
Am J Med Genet A
; 170A(1): 116-29, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420639
15.
Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.
Hum Mutat
; 36(9): 894-902, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077438
16.
Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome.
Am J Med Genet A
; 167A(1): 250-3, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25425496
17.
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Genes (Basel)
; 15(2)2024 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38397214
18.
Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.
Pediatr Rheumatol Online J
; 20(1): 58, 2022 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908058
19.
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Eur J Hum Genet
; 30(8): 967-975, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577939
20.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Ann Clin Transl Neurol
; 8(2): 471-476, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33405357