Detalhe da pesquisa
1.
Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
Pediatr Nephrol
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467926
2.
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.
Biol Blood Marrow Transplant
; 25(7): e226-e246, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30772512
3.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
4.
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
Am J Med Genet A
; 173(10): 2826-2830, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815995
5.
Hematopoietic stem cell transplantation for Morquio A syndrome.
Mol Genet Metab
; 117(2): 84-94, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26452513
6.
Activity of daily living for Morquio A syndrome.
Mol Genet Metab
; 118(2): 111-22, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27161890
7.
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
J Hum Genet
; 61(4): 335-43, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26740234
8.
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
Am J Med Genet A
; 170A(4): 908-17, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26782913
9.
Progressive hip joint subluxation in Saul-Wilson syndrome.
Am J Med Genet A
; 167A(11): 2834-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26239279
10.
Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
Pediatr Blood Cancer
; 62(3): 542-4, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25283271
11.
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
Tohoku J Exp Med
; 236(2): 103-6, 2015 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26018748
12.
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.
Mol Genet Metab
; 113(1-2): 92-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25092413
13.
Morquio A syndrome: diagnosis and current and future therapies.
Pediatr Endocrinol Rev
; 12 Suppl 1: 141-51, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25345096
14.
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
Hum Genet
; 131(1): 99-110, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21735175
15.
An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.
Biomed Rep
; 17(2): 64, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35815189
16.
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
Hum Genome Var
; 9(1): 9, 2022 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361766
17.
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
J Hum Genet
; 56(2): 110-24, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20981036
18.
Heterozygous C-propeptide mutations in COL1A1: osteogenesis imperfecta type IIC and dense bone variant.
Am J Med Genet A
; 155A(9): 2269-73, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21834035
19.
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Urol Case Rep
; 30: 101141, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154112
20.
A severe case of status dystonicus caused by a de novo KMT2B missense mutation.
Eur J Med Genet
; 63(11): 104057, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32877735