Detalhe da pesquisa
1.
[Genetic Diagnostics in Everyday Clinical Practice in Child and Adolescent Psychiatry: Indications, Framework Conditions, Hurdles, and Proposed Solutions]. / Genetische Diagnostik im klinischen Alltag der Kinder- und Jugendpsychiatrie Indikationen, Rahmenbedingungen, Hürden und Lösungsvorschläge.
Z Kinder Jugendpsychiatr Psychother
; 52(1): 43-59, 2024 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-37641943
2.
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Am J Med Genet A
; 182(5): 1021-1031, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32065501
3.
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.
Am J Hum Genet
; 97(3): 493-500, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26340335
4.
De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.
Am J Med Genet A
; 173(2): 435-443, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862890
5.
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.
Am J Hum Genet
; 90(3): 565-72, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22405089
6.
Recurrent null mutation in SPG20 leads to Troyer syndrome.
Mol Cell Probes
; 29(5): 315-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26003402
7.
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Lancet
; 380(9854): 1674-82, 2012 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23020937
8.
A phenotype map for 14q32.3 terminal deletions.
Am J Med Genet A
; 158A(4): 695-706, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22367666
9.
Phenotypic spectrum associated with CASK loss-of-function mutations.
J Med Genet
; 48(11): 741-51, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21954287
10.
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
BMC Med Genet
; 12: 106, 2011 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21827697
11.
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.
Hum Mutat
; 31(6): 722-33, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20513142
12.
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.
Hum Mutat
; 31(11): E1851-60, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20848658
13.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Eur J Hum Genet
; 23(6): 753-60, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138099
14.
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?
Mol Cytogenet
; 8: 72, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26421060
15.
Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation.
Eur J Med Genet
; 54(1): 67-72, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20950717
16.
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
Eur J Hum Genet
; 17(12): 1592-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19471318