Detalhe da pesquisa
1.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Am J Hum Genet
; 104(2): 246-259, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661772
2.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
3.
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
Am J Hum Genet
; 99(2): 253-74, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453576
4.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
Am J Hum Genet
; 104(4): 777, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30951678
5.
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Am J Hum Genet
; 94(4): 618-24, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680889
6.
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Brain
; 139(Pt 4): 1036-44, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26917597
7.
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Am J Hum Genet
; 91(1): 146-51, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22683086
8.
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Am J Hum Genet
; 90(2): 290-4, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265017
9.
Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.
Am J Med Genet A
; 164A(2): 386-91, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24311407
10.
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Eur J Hum Genet
; 31(12): 1421-1429, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37704779
11.
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.
Am J Med Genet A
; 158A(1): 215-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105938
12.
Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.
Hum Mutat
; 32(10): 1144-52, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21837767
13.
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
Hum Mol Genet
; 18(17): 3257-65, 2009 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19498035
14.
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
15.
A late presentation of Loeys-Dietz syndrome: joint hypermobility is not always benign.
Rheumatology (Oxford)
; 53(3): 574-6, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23980202
16.
Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.
Clin Dysmorphol
; 17(4): 279-81, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18978660
17.
Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease.
Pediatr Dermatol
; 24(6): 651-3, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18035989
18.
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
Am J Med Genet A
; 155A(5): 1192-5, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21465662
19.
Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report.
Clin Dysmorphol
; 12(2): 105-7, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12868472
20.
X-linked inheritance of Dandy-Walker variant.
Clin Dysmorphol
; 11(1): 15-8, 2002 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11822699