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1.
[Clinical Outcome of Microsatellite Instability-High Patients Treated with Pembrolizumab and Genetic Counseling].
Gan To Kagaku Ryoho
; 49(10): 1099-1104, 2022 Oct.
Artículo
en Japonés
| MEDLINE | ID: mdl-36281602
2.
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Am J Hum Genet
; 102(6): 1104-1114, 2018 06 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29861107
3.
[In Situ Ductal Carcinoma with Hereditary Breast and Ovarian Cancer Syndrome in a Patient Who Received Contralateral Risk-Reducing Mastectomy-A Case Report].
Gan To Kagaku Ryoho
; 47(9): 1387-1389, 2020 Sep.
Artículo
en Japonés
| MEDLINE | ID: mdl-33130707
4.
Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.
J Hum Genet
; 63(11): 1195, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30140059
5.
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region.
Hum Mutat
; 38(5): 503-506, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28087897
6.
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Am J Hum Genet
; 93(1): 173-80, 2013 Jul 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-23791108
7.
Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.
J Hum Genet
; 61(10): 879-884, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27357425
8.
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Genet Med
; 16(12): 903-12, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24810686
9.
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.
J Hum Genet
; 59(10): 549-53, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25102093
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-24664492
11.
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
Hum Genome Var
; 9(1): 17, 2022 May 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-35595744
12.
Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.
Endocr Connect
; 11(10)2022 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36006853
13.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-20981036
14.
A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia.
Hum Genome Var
; 8(1): 40, 2021 Oct 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-34716296
15.
Improved library preparation protocols for amplicon sequencing-based noninvasive fetal genotyping for RHD-positive D antigen-negative alleles.
BMC Res Notes
; 14(1): 380, 2021 Sep 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-34565457
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-20052757
17.
Clinical Genetics in Japan: Efforts of Human Genetics Societies and Related Organizations.
JMA J
; 3(1): 1-8, 2020 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33324770
18.
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Mol Genet Genomic Med
; 8(11): e1502, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-33016649
19.
Physicians' opinion for 'new' genetic testing in Japan.
J Hum Genet
; 54(4): 203-8, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19300458
20.
Perceptions of the concept of mutation among family members of patients receiving outpatient genetic services and university students.
J Genet Couns
; 18(6): 567-77, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-19779970