Detalhe da pesquisa
1.
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
Nat Genet
; 38(3): 294-6, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16474404
2.
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Am J Med Genet A
; 164A(5): 1272-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664492
3.
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Am J Med Genet A
; 164A(3): 597-609, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357569
4.
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Am J Med Genet A
; 161A(3): 518-26, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401378
5.
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Am J Med Genet A
; 161A(6): 1221-37, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23637025
6.
Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Am J Med Genet A
; 158A(2): 412-6, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22140075
7.
[Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available].
Rinsho Byori
; 60(1): 32-6, 2012 Jan.
Artigo
em Japonês
| MEDLINE | ID: mdl-22416454
8.
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.
Am J Med Genet A
; 155A(10): 2529-33, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910226
9.
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Hum Mutat
; 31(3): 284-94, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052757
10.
Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.
Am J Med Genet A
; 152A(12): 3143-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21108399
11.
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
Am J Med Genet A
; 152A(4): 875-85, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20358597
12.
A patient with early onset Huntington disease and severe cerebellar atrophy.
Am J Med Genet A
; 149A(4): 598-601, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19253382
13.
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Hum Mutat
; 29(8): 992-1006, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18470943
14.
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
J Hum Genet
; 53(9): 834-841, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18651097
15.
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.
J Pediatr Hematol Oncol
; 29(5): 287-90, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17483702
16.
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Am J Med Genet A
; 143A(8): 799-807, 2007 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17366577
17.
Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.
Clin Dysmorphol
; 20(3): 166-167, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21471810
18.
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
J Hum Genet
; 51(5): 455-460, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16596322