Detalhe da pesquisa
1.
The clinical relevance of intragenic NRXN1 deletions.
J Med Genet
; 57(5): 347-355, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31932357
2.
Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome.
J Appl Res Intellect Disabil
; 34(4): 1076-1088, 2021 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-33525061
3.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artigo
Inglês
| MEDLINE | ID: mdl-26166480
4.
Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.
Prenat Diagn
; 38(4): 258-266, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29388226
5.
Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies.
Genet Med
; 19(3): 306-313, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-27584908
6.
Expanding the phenotype of copy number variations involving NR0B1 (DAX1).
Eur J Hum Genet
; 32(4): 421-425, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38200083
7.
Consensus recommendations on altered sensory functioning in Phelan-McDermid syndrome.
Eur J Med Genet
; 66(5): 104726, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-36796507
8.
The developmental impact of sex chromosome trisomies on emerging executive functions in young children: Evidence from neurocognitive tests and daily life skills.
Genes Brain Behav
; 21(6): e12811, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35584398
9.
Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium.
Acta Clin Belg
; 77(1): 86-92, 2022 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32780684
10.
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.
Eur J Hum Genet
; 30(12): 1323-1330, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35896702
11.
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
Science
; 376(6599): eabm6380, 2022 06 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35587511
12.
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 â pter.
Am J Med Genet A
; 155A(8): 1833-47, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21744486
13.
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
Genes Chromosomes Cancer
; 49(3): 242-52, 2010 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19953625
14.
Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders.
Curr Opin Psychiatry
; 34(2): 118-122, 2021 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33278153
15.
Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome.
Mol Syndromol
; 10(6): 294-305, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32021603
16.
Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines.
J Oncol
; 2020: 9873954, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32655641
18.
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
Eur J Med Genet
; 59(9): 436-43, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27519580
19.
Congenital aural atresia in 18q deletion or de Grouchy syndrome.
Otol Neurotol
; 24(6): 900-6, 2003 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-14600472
20.
Speech and language in Wolf-Hirschhorn syndrome: a case-study.
J Commun Disord
; 37(1): 21-33, 2004.
Artigo
Inglês
| MEDLINE | ID: mdl-15013377