Detalhe da pesquisa
1.
Overview and recent developments in cell-based noninvasive prenatal testing.
Prenat Diagn
; 41(10): 1202-1214, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33974713
2.
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Hum Mutat
; 40(1): 53-72, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30303587
3.
Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Hum Genet
; 138(6): 593-600, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982135
4.
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance.
J Hum Genet
; 64(2): 153-160, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30498240
5.
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment.
Hum Genet
; 137(6-7): 471-478, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971487
6.
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
Hum Genet
; 137(9): 735-752, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167849
7.
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.
BMC Med Genet
; 19(1): 122, 2018 07 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30029624
8.
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.
J Hum Genet
; 63(11): 1099-1107, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177809
9.
A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.
Hum Mol Genet
; 24(9): 2482-91, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25601850
10.
MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.
Hum Mutat
; 37(5): 481-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26841241
11.
A mutation in SLC22A4 encoding an organic cation transporter expressed in the cochlea strial endothelium causes human recessive non-syndromic hearing loss DFNB60.
Hum Genet
; 135(5): 513-524, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27023905
12.
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Mol Genet Genomics
; 290(4): 1327-34, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25633957
13.
Comparison of Four Protocols for In Vitro Differentiation of Human Embryonic Stem Cells into Trophoblast Lineages by BMP4 and Dual Inhibition of Activin/Nodal and FGF2 Signaling.
Reprod Sci
; 31(1): 173-189, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37658178
14.
Loss of the Maternal Effect Gene Nlrp2 Alters the Transcriptome of Ovulated Mouse Oocytes and Impacts Expression of Histone Demethylase KDM1B.
Reprod Sci
; 30(9): 2780-2793, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36976514
15.
Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.
J Biomol Struct Dyn
; 40(21): 10940-10951, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34423747
16.
DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting.
Genes (Basel)
; 12(8)2021 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440388
17.
Reproductive Outcomes from Maternal Loss of Nlrp2 Are Not Improved by IVF or Embryo Transfer Consistent with Oocyte-Specific Defect.
Reprod Sci
; 28(7): 1850-1865, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090377
18.
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Eur J Hum Genet
; 27(9): 1456-1465, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31053783
19.
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.
Eur J Hum Genet
; 27(6): 869-878, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30872814
20.
FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
J Bone Miner Res
; 34(2): 375-386, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30395363