Detalhe da pesquisa
1.
Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
PLoS Genet
; 17(8): e1009698, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34358225
2.
Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.
Lab Invest
; 103(11): 100233, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37567389
3.
Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.
Clin Endocrinol (Oxf)
; 99(1): 58-63, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905105
4.
Prenatal ultrasound finding of atypical genitalia: Counseling, genetic testing and outcomes.
Prenat Diagn
; 43(2): 162-182, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35808910
5.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
6.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Hum Mutat
; 43(12): 2130-2140, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36251260
7.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
8.
Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Genet Med
; 24(9): 1941-1951, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678782
9.
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
Hum Genet
; 140(12): 1775-1789, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642815
10.
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 149-154, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32873933
11.
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.
Genet Med
; 23(11): 2122-2137, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345025
12.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand
; 100(6): 1106-1115, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249554
13.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32480058
14.
Response to letter to the editor: 'Gonadal tumour screening in XY gonadal dysgenesis'.
Clin Endocrinol (Oxf)
; 100(5): 466-467, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38469934
15.
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
Hum Mol Genet
; 25(3): 571-83, 2016 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647307
16.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 29(6): 1054, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32016392
17.
The biology of germ cell tumors in disorders of sex development.
Clin Genet
; 91(2): 292-301, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27716895
18.
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Genet Med
; 23(1): 237, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32934366
19.
Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.
Eur J Pediatr
; 175(4): 489-97, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26498647
20.
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.
Hum Mol Genet
; 22(5): 1026-38, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23221805