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1.
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
2.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Article
in English
| MEDLINE | ID: mdl-30639322
3.
Heterozygous deletion of the VEGFC gene in 4q34.3 is associated with Milroy-like lymphedema: First prenatal case report.
Am J Med Genet A
; 188(12): 3550-3554, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36129367
4.
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Am J Med Genet A
; 185(10): 3057-3061, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34043868
5.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Article
in English
| MEDLINE | ID: mdl-30923172
6.
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations.
Clin Chem
; 65(9): 1153-1160, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31292136
7.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Article
in English
| MEDLINE | ID: mdl-31879022
8.
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
Prenat Diagn
; 36(6): 523-9, 2016 Jun.
Article
in English
| MEDLINE | ID: mdl-27018091
9.
[Malignant meningioma with adenocarcinoma-like metaplasia: a rare entity to be not misdiagnosed]. / Le méningiome malin avec métaplasie adénocarcinomateuse: une entité rare à ne pas méconnaître.
Ann Pathol
; 34(3): 223-7, 2014 Jun.
Article
in French
| MEDLINE | ID: mdl-24950872
10.
Generation of 17q21.31 duplication iPSC-derived neurons as a model for primary tauopathies.
Stem Cell Res
; 61: 102762, 2022 05.
Article
in English
| MEDLINE | ID: mdl-35358831
11.
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation.
Eur J Hum Genet
; 29(1): 99-109, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32591635
12.
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Transl Psychiatry
; 10(1): 77, 2020 02 24.
Article
in English
| MEDLINE | ID: mdl-32094338
13.
Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.
Eur J Hum Genet
; 14(9): 1009-17, 2006 Sep.
Article
in English
| MEDLINE | ID: mdl-16773131
14.
[A, not so robertsonian, translocation!] / Une translocation pas si robertsonienne !
Ann Biol Clin (Paris)
; 79(3): 261-264, 2021 06 01.
Article
in French
| MEDLINE | ID: mdl-34159905
15.
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
Eur J Hum Genet
; 24(6): 830-7, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26395556
16.
Chromosomal instability but lack of transformation in human myoblast preparations.
Cell Transplant
; 23(12): 1475-87, 2014.
Article
in English
| MEDLINE | ID: mdl-25565635
17.
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.
Arch Gen Psychiatry
; 66(9): 947-56, 2009 Sep.
Article
in English
| MEDLINE | ID: mdl-19736351
18.
Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.
Am J Med Genet A
; 134(4): 439-42, 2005 May 01.
Article
in English
| MEDLINE | ID: mdl-15810003
19.
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
Am J Med Genet A
; 140(14): 1608-13, 2006 Jul 15.
Article
in English
| MEDLINE | ID: mdl-16761289
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