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1.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy.
Clin Genet
; 105(6): 676-682, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38356193
2.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Article
in English
| MEDLINE | ID: mdl-38561231
3.
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
4.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; : e63531, 2024 Feb 29.
Article
in English
| MEDLINE | ID: mdl-38421086
5.
HDAC6 regulates human erythroid differentiation through modulation of JAK2 signalling.
J Cell Mol Med
; 27(2): 174-188, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36578217
6.
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
7.
Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias.
Genes Chromosomes Cancer
; 60(10): 657-667, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33982372
8.
Kleefstra syndrome: Recurrence in siblings due to a paternal mosaic mutation.
Am J Med Genet A
; 185(12): 3877-3883, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34357686
9.
Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.
Am J Med Genet A
; 173(11): 2923-2946, 2017 Nov.
Article
in English
| MEDLINE | ID: mdl-28948695
10.
New intragenic rearrangements in non-Finnish mulibrey nanism.
Am J Med Genet A
; 173(10): 2782-2788, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28815877
11.
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
Am J Med Genet A
; 167A(2): 428-33, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25428228
12.
Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.
Am J Med Genet A
; 167A(3): 504-11, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25572454
13.
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
Hum Mutat
; 35(10): 1221-32, 2014 Oct.
Article
in English
| MEDLINE | ID: mdl-25044882
14.
A patient with Simpson-Golabi-Behmel syndrome, biliary cirrhosis and successful liver transplantation.
Am J Med Genet A
; 164A(3): 774-7, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24357529
15.
STIM2 is involved in the regulation of apoptosis and the cell cycle in normal and malignant monocytic cells.
Mol Oncol
; 2024 Jan 17.
Article
in English
| MEDLINE | ID: mdl-38234211
16.
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Circ Genom Precis Med
; 17(1): e004285, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38059363
17.
A ZP1 gene mutation in a patient with empty follicle syndrome: A case report and literature review.
Eur J Obstet Gynecol Reprod Biol
; 280: 193-197, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36529558
18.
Risk factors for failed chorionic villus sampling: results of a 4-year retrospective study.
J Matern Fetal Neonatal Med
; 35(1): 141-146, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-31928264
19.
The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Eur J Med Genet
; 65(3): 104445, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-35091117
20.
Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.
Gene
; 777: 145465, 2021 Apr 20.
Article
in English
| MEDLINE | ID: mdl-33524520