Detalhe da pesquisa
1.
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.
Clin Genet
; 2024 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38857973
2.
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.
Genet Med
; 23(4): 661-668, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420346
3.
Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities.
Cleft Palate Craniofac J
; 52(4): 411-6, 2015 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24805874
4.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HGG Adv
; 5(3): 100287, 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553851
5.
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.
Eur J Pediatr
; 172(7): 927-45, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23440478
6.
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
Eur J Med Genet
; 63(1): 103624, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30690204
7.
Application of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations.
J Mol Diagn
; 22(8): 1041-1049, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32497716
8.
Heterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment.
Clin Case Rep
; 7(8): 1582-1584, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31428396
9.
Diagnostic Approach to Microdeletion Syndromes Based on 22q11.2 Investigation: Challenges in Four Cases.
Mol Syndromol
; 8(5): 244-252, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878608
10.
8p23.1 Interstitial Deletion in a Patient with Congenital Cardiopathy, Neurobehavioral Disorders, and Minor Signs Suggesting 22q11.2 Deletion Syndrome.
J Dev Behav Pediatr
; 36(7): 544-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26263419
11.
22q11.2 Deletion Syndrome: Laboratory Diagnosis and TBX1 and FGF8 Mutation Screening.
J Pediatr Genet
; 4(1): 17-22, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27617111