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1.
Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
Clin Genet
; 96(4): 354-358, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31290144
2.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-23332918
3.
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
Am J Hum Genet
; 93(2): 197-210, 2013 Aug 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-23810381
4.
The complex behavioral phenotype of 15q13.3 microdeletion syndrome.
Genet Med
; 18(11): 1111-1118, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-26963284
5.
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
Hum Genet
; 134(11-12): 1163-82, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26337422
6.
7q11.23 Duplication syndrome: Physical characteristics and natural history.
Am J Med Genet A
; 167A(12): 2916-35, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26333794
7.
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Hum Mol Genet
; 21(15): 3345-55, 2012 Aug 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-22543972
8.
A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.
Am J Med Genet A
; 164A(10): 2607-12, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25091507
9.
Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.
Am J Hum Genet
; 87(6): 857-65, 2010 Dec 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-21109226
10.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Am J Med Genet A
; 161A(4): 717-31, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23495017
11.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22290657
12.
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
Neurogenetics
; 13(4): 333-9, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22890812
13.
High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.
Hum Genet
; 131(1): 145-56, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21800092
14.
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
BMC Med Genet
; 13: 71, 2012 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-22883432
15.
Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.
J Med Genet
; 47(11): 777-81, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20921022
16.
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Genet Med
; 12(10): 641-7, 2010 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-20808231
17.
Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?
Am J Med Genet A
; 152A(7): 1832-7, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20583182
18.
Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.
Am J Med Genet A
; 152A(8): 1951-9, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20635359
19.
Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay.
Am J Med Genet B Neuropsychiatr Genet
; 153B(5): 983-93, 2010 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-20162629
20.
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Genome Med
; 11(1): 25, 2019 04 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-31014393