Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36586412
2.
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
Am J Med Genet A
; 194(5): e63532, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38192009
3.
3q29 duplications: A cohort of 46 patients and a literature review.
Am J Med Genet A
; 194(7): e63531, 2024 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-38421086
4.
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
Inglês
| MEDLINE | ID: mdl-36369750
5.
Anti-D alloimmunization by Asia type DEL red blood cell units in a D-negative Thai patient.
Transfus Apher Sci
; 62(6): 103837, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37872073
6.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Hum Genomics
; 15(1): 44, 2021 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34256850
7.
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Clin Genet
; 100(4): 386-395, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34164801
8.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34176129
9.
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
Clin Genet
; 103(3): 377-379, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36444497
10.
A novel complex RHD(L62F,A137V,N152T)-CE(6-7(G336C))-D allele in a patient of African ancestry.
Transfusion
; 62(9): E49-E51, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35916316
11.
First investigation of RH gene polymorphism in patients with sickle cell disease and associated blood donors in Cameroon, Central Africa.
Blood Transfus
; 2024 Jan 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38315540
12.
Characterization of two deletions of the CTRC locus.
Mol Genet Metab
; 109(3): 296-300, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23721890
13.
Serologically D-negative blood donors in Thailand: molecular variants and diagnostic strategy.
Blood Transfus
; 21(3): 209-217, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36346882
14.
From the investigation of RHD-CE hybrid genes to the recognition of RHCE variants and RHD zygosity. Expanding the analysis by QMPSF in Brazilian donors and in patients with sickle cell disease.
Blood Transfus
; 21(3): 202-208, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35848626
15.
Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.
Hum Mutat
; 33(8): 1239-50, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22508176
16.
Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.
Transfusion
; 52(4): 759-64, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21950494
17.
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
Am J Med Genet A
; 173(5): 1444-1446, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-28371320
18.
Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.
Hum Mutat
; 31(4): 421-8, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20052766
19.
Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18.
Am J Med Genet A
; 152A(10): 2646-50, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20830794
20.
A small de novo 16q24.1 duplication in a woman with severe clinical features.
Eur J Med Genet
; 56(4): 211-5, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23333879