Detalhe da pesquisa
1.
Autism and attention-deficit/hyperactivity disorders and symptoms in children with neurofibromatosis type 1.
Dev Med Child Neurol
; 63(2): 226-232, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32406525
2.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
3.
De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Hum Genet
; 137(3): 257-264, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556724
4.
Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
Am J Med Genet A
; 176(4): 973-979, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423971
5.
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Am J Hum Genet
; 95(5): 579-83, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439098
6.
Autism questionnaire scores do not only rise because of autism.
Dev Med Child Neurol
; 63(2): 235-236, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118173
7.
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.
Hum Mol Genet
; 21(11): 2572-87, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22378147
8.
Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
J Med Genet
; 49(2): 110-8, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22180641
9.
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Genet Med
; 11(11): 797-805, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19938247
10.
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.
Eur J Hum Genet
; 25(5): 552-559, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28327570
11.
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Orphanet J Rare Dis
; 11(1): 149, 2016 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816064
12.
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Eur J Hum Genet
; 22(1): 57-63, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23632792
13.
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Orphanet J Rare Dis
; 7: 70, 2012 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-22998683
14.
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
Am J Med Genet A
; 143A(10): 1071-81, 2007 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17431898
15.
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype.
Am J Med Genet A
; 116A(2): 176-8, 2003 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12494438
16.
Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders.
Am J Med Genet A
; 117A(2): 105-11, 2003 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12567405