Detalhe da pesquisa
1.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain
; 147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141063
2.
Optical genome mapping enables constitutional chromosomal aberration detection.
Am J Hum Genet
; 108(8): 1409-1422, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34237280
3.
Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.
Clin Genet
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38561231
4.
Clinical and molecular cytogenetic studies of five new patients with 20q11q12 deletion and review of the literature: Proposition of two critical regions.
Am J Med Genet A
; : e63580, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511524
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
6.
Kidney and urological involvement in Down syndrome: frequent, underestimated, but associated with impaired quality of life and risk of kidney failure.
Pediatr Nephrol
; 39(2): 347-355, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37386331
7.
Creatinine levels in French children with Down syndrome up to ten years old.
Eur J Pediatr
; 183(4): 1953-1957, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38319403
8.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet
; 106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32109418
9.
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Clin Genet
; 103(4): 401-412, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576162
10.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
11.
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms.
Epilepsia
; 64(12): 3377-3388, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734923
12.
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
Mol Biol Evol
; 38(12): 5576-5587, 2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34464971
13.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Am J Hum Genet
; 104(2): 213-228, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639323
14.
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clin Genet
; 101(3): 307-316, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34866188
15.
Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive.
Hum Reprod
; 37(11): 2518-2531, 2022 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36112034
16.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445792
17.
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
Haemophilia
; 28(1): 117-124, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480810
18.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Prenat Diagn
; 42(1): 118-135, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894355
19.
X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.
Neurogenetics
; 22(1): 43-51, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33415589
20.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337