Detalhe da pesquisa
1.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015437
2.
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.
Hum Mol Genet
; 32(14): 2318-2325, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37070740
3.
Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
Hum Mol Genet
; 32(12): 2032-2045, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36851842
4.
Two ovarian candidate enhancers, identified by time series enhancer RNA analyses, harbor rare genetic variations identified in ovarian insufficiency.
Hum Mol Genet
; 31(13): 2223-2235, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35134173
5.
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Hum Reprod
; 39(5): 1131-1140, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38511217
6.
Y Chromosome Genomic Variations and Biological Significance in Human Diseases and Health.
Cytogenet Genome Res
; 163(1-2): 5-13, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562362
7.
Rare sequence variants associated with the risk of non-syndromic biliary atresia.
Hepatol Res
; 53(11): 1134-1141, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491771
8.
CDKN1C hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited KCNQ1OT1:TSS-DMR.
J Med Genet
; 59(12): 1241-1246, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35906012
9.
The Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.
Int J Mol Sci
; 24(18)2023 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761981
10.
Genetic variants of G-protein coupled receptors associated with pubertal disorders.
Reprod Med Biol
; 22(1): e12515, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37122876
11.
Exome-based genome-wide screening of rare variants associated with the risk of polycystic ovary syndrome.
Reprod Med Biol
; 22(1): e12504, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36845002
12.
Optical Genome Mapping for a Patient with a Congenital Disorder and Chromosomal Translocation.
Cytogenet Genome Res
; 162(11-12): 617-624, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37231804
13.
ACAN biallelic variants in a girl with severe idiopathic short stature.
J Hum Genet
; 67(8): 481-486, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35314765
14.
Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system.
J Hum Genet
; 67(10): 607-611, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35606504
15.
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
J Hum Genet
; 67(5): 303-306, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999728
16.
SHOX far-downstream deletion in a patient with nonsyndromic short stature.
Am J Med Genet A
; 188(7): 2173-2177, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35319168
17.
Quantification of Maternal Microchimeric Cells in the Liver of Children With Biliary Atresia.
J Pediatr Gastroenterol Nutr
; 74(4): e83-e86, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35082246
18.
Mosaic loss of the Y chromosome and men's health.
Reprod Med Biol
; 21(1): e12445, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35386373
19.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet
; 28(14): 2319-2329, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30985895
20.
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplification.
J Hum Genet
; 66(12): 1181-1184, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34108640