Detalhe da pesquisa
1.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
2.
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Clin Genet
; 103(5): 560-565, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36453701
3.
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
4.
A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
Clin Genet
; 102(6): 543-547, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031591
5.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
6.
Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.
Neurogenetics
; 22(3): 195-206, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34132911
7.
Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report.
Cytogenet Genome Res
; 161(8-9): 445-448, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34818214
8.
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Clin Genet
; 100(4): 462-467, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212369
9.
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Hum Mutat
; 41(5): 926-933, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32058622
10.
12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A.
Am J Med Genet A
; 182(9): 2133-2138, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633079
11.
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Prenat Diagn
; 36(8): 744-51, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27297286
12.
Large Cell Neuroendocrine Carcinoma of the Nasopharynx: A Pediatric Case.
J Pediatr Hematol Oncol
; 37(6): 474-6, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851554
13.
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
Am J Med Genet A
; 164A(7): 1821-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715367
14.
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Nat Genet
; 37(9): 964-8, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16116425
15.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol
; 126(3): 427-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23820807
16.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain
; 135(Pt 2): 469-82, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22323514
17.
Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography.
J Ultrasound Med
; 37(2): 531-534, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815748
18.
Androgenetic/biparental mosaicism in a diploid mole-like conceptus: report of a case with triple paternal contribution.
Virchows Arch
; 483(5): 709-715, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37695410
19.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Nat Genet
; 54(8): 1214-1226, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864190
20.
Structural abnormalities of chromosome 8 and fetoplacental discrepancy: A second case report and review of fetal phenotype of 8p inverted duplication deletion syndrome.
Eur J Med Genet
; 64(1): 104118, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33248287