Search details
1.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Article
in English
| MEDLINE | ID: mdl-38561231
2.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37974505
3.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
J Med Genet
; 60(6): 620-626, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36368868
4.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Genet Med
; 25(4): 100018, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36681873
5.
Morphological and genetic causes of fetal cardiomyopathies.
Clin Genet
; 104(1): 63-72, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37209000
6.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36196855
7.
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenat Diagn
; 43(6): 734-745, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36914926
8.
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
J Med Genet
; 59(5): 417-427, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35110414
9.
Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75.
Nucleic Acids Res
; 49(19): 11241-11256, 2021 11 08.
Article
in English
| MEDLINE | ID: mdl-34634812
10.
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.
Hum Genet
; 140(6): 933-944, 2021 Jun.
Article
in English
| MEDLINE | ID: mdl-33475861
11.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat
; 41(9): 1615-1628, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32579715
12.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Article
in English
| MEDLINE | ID: mdl-28132691
13.
Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3.
Clin Genet
; 98(4): 384-389, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32639022
14.
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1.
Am J Med Genet A
; 179(6): 1030-1033, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30903679
15.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30896039
16.
Interest of chromosomal microarray analysis in the prenatal diagnosis of fetal intrauterine growth restriction.
Prenat Diagn
; 38(13): 1111-1119, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30328630
17.
BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus.
Proc Natl Acad Sci U S A
; 112(25): E3207-15, 2015 Jun 23.
Article
in English
| MEDLINE | ID: mdl-26056270
18.
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.
J Pediatr
; 185: 160-166.e1, 2017 06.
Article
in English
| MEDLINE | ID: mdl-28284480
19.
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
J Med Genet
; 53(11): 752-760, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27358179
20.
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
J Hum Genet
; 61(8): 693-9, 2016 Aug.
Article
in English
| MEDLINE | ID: mdl-27193221