Detalhe da pesquisa
1.
A Patient with Kabuki Syndrome Mutation Presenting with Very Severe Aplastic Anemia.
Acta Haematol
; 145(1): 89-96, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34515044
2.
Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation.
Gynecol Endocrinol
; 34(5): 381-384, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29068264
3.
Transforming growth factor beta1 (TGFß1) polymorphisms and breast cancer risk.
Tumour Biol
; 35(5): 4757-64, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24425107
4.
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Am J Med Genet A
; 161A(9): 2234-43, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913813
5.
Progressive Massive Splenomegaly in an Adult Patient with Kabuki Syndrome Complicated with Immune Thrombocytopenic Purpura.
Intern Med
; 60(12): 1927-1933, 2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33518579
6.
Comprehensive analysis for detecting radiation-specific molecules expressed during radiation-induced rat thyroid carcinogenesis.
J Radiat Res
; 62(Supplement_1): i78-i87, 2021 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33978177
7.
Role of DNA methylation and histone H3 lysine 27 methylation in tissue-specific imprinting of mouse Grb10.
Mol Cell Biol
; 27(2): 732-42, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17101788
8.
TERT mRNA Expression as a Novel Prognostic Marker in Papillary Thyroid Carcinomas.
Thyroid
; 29(8): 1105-1114, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286848
9.
Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.
Sci Rep
; 6: 22985, 2016 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26957145
10.
Lack of association between the TGF-beta1 gene polymorphisms and recurrent spontaneous abortion.
J Reprod Immunol
; 68(1-2): 91-103, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16236363
11.
Duplication of 8p23.2: a benign cytogenetic variant?
Am J Med Genet
; 111(3): 285-8, 2002 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12210324
12.
A monozygotic twin pregnancy discordant for acardia and X-inactivation pattern.
Eur J Obstet Gynecol Reprod Biol
; 117(1): 102-4, 2004 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-15474253
13.
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Cell Signal
; 26(11): 2446-59, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25064455
14.
Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.
Sci Rep
; 7: 39897, 2017 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079102
15.
Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion.
J Reprod Immunol
; 88(1): 42-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21030093
16.
Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene.
Gene
; 432(1-2): 97-101, 2009 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19095049
17.
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
Am J Hum Genet
; 81(4): 835-41, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17847009
18.
A -16C>T substitution in the 5' UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
J Hum Genet
; 51(5): 461-466, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16614795
19.
BAC array CGH reveals genomic aberrations in idiopathic mental retardation.
Am J Med Genet A
; 140(3): 205-11, 2006 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16419101
20.
Neuron-specific relaxation of Igf2r imprinting is associated with neuron-specific histone modifications and lack of its antisense transcript Air.
Hum Mol Genet
; 14(17): 2511-20, 2005 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16037066