Detalhe da pesquisa
1.
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.
Genet Med
; 24(9): 1927-1940, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35670808
2.
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.
Clin Genet
; 99(4): 588-593, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33439489
3.
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Hum Genet
; 139(10): 1325-1343, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32399598
4.
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature.
Am J Med Genet A
; 179(7): 1351-1356, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31050392
5.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28687708
6.
Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Am J Med Genet A
; 170(12): 3069-3082, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27648933
7.
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.
Hum Mol Genet
; 22(16): 3306-14, 2013 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23615299
8.
Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants.
Endocr Metab Immune Disord Drug Targets
; 2023 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37817524
9.
Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
J Pediatr Endocrinol Metab
; 25(3-4): 367-70, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22768671
10.
New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene.
J AAPOS
; 26(5): 268-270, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35940561
11.
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
Inglês
| MEDLINE | ID: mdl-35864190
12.
Prenatal diagnosis of persistent urogenital sinus with duplicated hydrometrocolpos and ascites--a case report.
Fetal Diagn Ther
; 28(4): 229-32, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20720389
13.
NGLY1 deficiency-A rare congenital disorder of deglycosylation.
JIMD Rep
; 53(1): 2-9, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32395402
14.
Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome.
Case Rep Pediatr
; 2019: 8563095, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31110831
15.
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Mitochondrion
; 47: 309-317, 2019 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30831263
16.
Genomic imbalances defining novel intellectual disability associated loci.
Orphanet J Rare Dis
; 14(1): 164, 2019 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31277718
17.
Peutz-Jeghers syndrome: early clinical expression of a new STK11 gene variant.
BMJ Case Rep
; 20152015 Oct 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26430231
18.
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.
Eur J Hum Genet
; 20(7): 729-33, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22293690
19.
Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation.
Clin Dysmorphol
; 19(3): 150-152, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20299969