Detalhe da pesquisa
1.
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.
J Biol Chem
; 293(27): 10810-10824, 2018 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769320
2.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum Mol Genet
; 22(1): 1-17, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949511
3.
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Am J Hum Genet
; 88(4): 508-15, 2011 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21473986
4.
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Neurogenetics
; 14(2): 113-21, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23456229
5.
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.
Clin Endocrinol (Oxf)
; 78(4): 545-50, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22909003
6.
Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.
Pediatr Dermatol
; 30(4): 476-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23131169
7.
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Nat Genet
; 36(4): 405-10, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-14991055
8.
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Hum Mutat
; 33(1): 64-72, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22045651
9.
Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Am J Med Genet A
; 158A(11): 2733-42, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23023959
10.
Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.
Am J Med Genet A
; 155A(3): 589-94, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21337685
11.
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.
Clin Orthop Relat Res
; 469(6): 1785-90, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21442341
12.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
Hum Mutat
; 31(10): 1142-54, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20672375
13.
The Coffin-Lowry syndrome: a case report and review of the literature.
J Obstet Gynaecol Can
; 32(7): 691-4, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20707959
14.
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Eur J Hum Genet
; 16(10): 1176-86, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18478038
15.
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Ann Neurol
; 62(4): 390-405, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17886299
16.
Isolated absence of the Moro reflex in a baby with CHARGE syndrome could reflect vestibular abnormalities.
J Child Neurol
; 23(5): 561-3, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18448573
17.
Characterizing the oculoauriculofrontonasal syndrome.
Clin Dysmorphol
; 17(2): 79-85, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18388775
18.
FGFR3 mutations and medial temporal lobe dysgenesis.
J Child Neurol
; 22(2): 211-3, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17621485
19.
Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?
Clin Dysmorphol
; 16(1): 9-13, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17159508
20.
Prenatal diagnosis of trisomy 3 mosaicism in a fetus with severe IUGR.
Prenat Diagn
; 30(8): 803-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20578259