Detalhe da pesquisa
1.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31870554
2.
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.
Clin Genet
; 99(4): 519-528, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33368193
3.
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Genet Med
; 22(1): 181-188, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31363182
4.
Growth charts in Kabuki syndrome 1.
Am J Med Genet A
; 182(3): 446-453, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31876365
5.
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.
Am J Med Genet A
; 179(12): 2365-2373, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31509347
6.
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
Inglês
| MEDLINE | ID: mdl-29618507
7.
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Hum Genet
; 137(9): 753-768, 2018 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30167850
8.
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 96(5): 753-64, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25892112
9.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25865493
10.
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Am J Med Genet A
; 176(10): 2172-2181, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30289625
11.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
; 175(4): 417-430, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29178447
12.
Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.
Am J Med Genet A
; 173(11): 3114-3117, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-28940926
13.
FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.
Am J Med Genet A
; 173(9): 2489-2493, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28657660
14.
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Hum Genet
; 135(3): 273-85, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26742502
15.
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Am J Hum Genet
; 92(3): 439-47, 2013 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23453669
16.
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Genet Med
; 18(1): 49-56, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25790162
17.
Prenatal findings in cardio-facio-cutaneous syndrome.
Am J Med Genet A
; 170A(2): 441-445, 2016 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-26494162
18.
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
Am J Med Genet A
; 170(8): 2103-10, 2016 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27256868
19.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Am J Med Genet A
; 170(11): 2847-2859, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27605097
20.
Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
Prenat Diagn
; 36(6): 561-7, 2016 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-27061523