Detalhe da pesquisa
1.
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome.
J Intellect Disabil Res
; 68(4): 369-376, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38229473
2.
An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome.
J Intellect Disabil Res
; 67(9): 860-868, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449408
3.
The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
J Intellect Disabil Res
; 66(4): 313-322, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191118
4.
A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium.
Mol Psychiatry
; 22(12): 1664-1672, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28761081
5.
Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome.
Ultrasound Obstet Gynecol
; 47(2): 177-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26396068
6.
Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities.
Mol Psychiatry
; 19(11): 1205-11, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24445907
7.
Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated.
Psychol Med
; 44(6): 1267-77, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24016317
8.
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function.
J Med Genet
; 46(6): 389-98, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19346217
9.
Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes.
Neuropsychologia
; 46(1): 82-94, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17920087
10.
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.
Clin Genet
; 74(5): 469-75, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18811697
11.
Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.
AJNR Am J Neuroradiol
; 39(5): 928-934, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29545254
12.
Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome.
Transl Psychiatry
; 7(7): e1180, 2017 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28742080
13.
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.
J Neuropathol Exp Neurol
; 56(10): 1147-57, 1997 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9329459
14.
Sibs with cleidocranial dysplasia born to normal parents: germ line mosaicism?
Am J Med Genet
; 69(4): 348-51, 1997 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-9098480
15.
Further clinical delineation and increased morbidity in males with osteopathia striata with cranial sclerosis: an X-linked disorder?
Am J Med Genet
; 70(2): 159-65, 1997 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-9128936
16.
Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion.
Am J Med Genet
; 44(6): 790-4, 1992 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-1481848
17.
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter.
Am J Med Genet
; 41(1): 18-20, 1991 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-1659191
18.
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus.
Am J Med Genet
; 39(2): 167-9, 1991 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-2063919
19.
Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.
Am J Med Genet
; 73(4): 419-24, 1997 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-9415469
20.
Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance.
Am J Med Genet
; 68(4): 441-4, 1997 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-9021018