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Items: 1 to 20 of 2735

1.

Expanding the concept of peroxisomal diseases and efficient diagnostic system in Japan.

Takashima S, Saitsu H, Shimozawa N.

J Hum Genet. 2018 Sep 20. doi: 10.1038/s10038-018-0512-1. [Epub ahead of print] Review.

PMID:
30237433
2.

Maternally inherited 133kb deletion of 14q32 causing Kagami-Ogata syndrome.

Jung HS, Vallee SE, Dinulos MB, Tsongalis GJ, Lefferts JA.

J Hum Genet. 2018 Sep 19. doi: 10.1038/s10038-018-0506-z. [Epub ahead of print]

PMID:
30232357
3.

A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Takagi M, Shimomura S, Fukuzawa R, Narumi S, Nishimura G, Hasegawa T.

J Hum Genet. 2018 Sep 18. doi: 10.1038/s10038-018-0513-0. [Epub ahead of print]

PMID:
30228365
4.

Molecular pathogenesis of triple-negative breast cancer based on microRNA expression signatures: antitumor miR-204-5p targets AP1S3.

Toda H, Kurozumi S, Kijima Y, Idichi T, Shinden Y, Yamada Y, Arai T, Maemura K, Fujii T, Horiguchi J, Natsugoe S, Seki N.

J Hum Genet. 2018 Sep 18. doi: 10.1038/s10038-018-0510-3. [Epub ahead of print]

PMID:
30228364
5.

Catechol-O-methyltransferase (COMT) genotypes are associated with varying soluble, but not membrane-bound COMT protein in the human prefrontal cortex.

Parkin GM, Udawela M, Gibbons A, Scarr E, Dean B.

J Hum Genet. 2018 Sep 14. doi: 10.1038/s10038-018-0511-2. [Epub ahead of print]

PMID:
30218069
6.

Genome-wide DNA methylation analysis of human peripheral blood reveals susceptibility loci of diabetes-related hearing loss.

Hao J, Hua L, Fu X, Zhang X, Zou Q, Li Y.

J Hum Genet. 2018 Sep 12. doi: 10.1038/s10038-018-0507-y. [Epub ahead of print]

PMID:
30209346
7.

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction.

Inagaki N, Hayashi T, Takei Y, Tanimoto K, Chikamori T, Kimura A.

J Hum Genet. 2018 Sep 11. doi: 10.1038/s10038-018-0509-9. [Epub ahead of print]

PMID:
30206291
8.

Gastric cancer may share genetic predisposition with esophageal squamous cell carcinoma in Chinese populations.

Yao L, Yu F, Mao Y, Wang T, Qi Q, Ding H, Wang J, Ma H, Dai J, Zhang G, Jin G.

J Hum Genet. 2018 Sep 10. doi: 10.1038/s10038-018-0501-4. [Epub ahead of print]

PMID:
30202044
9.

A comparison of genome cohort participants' genetic knowledge and preferences to receive genetic results before and after a genetics workshop.

Yamamoto K, Shimizu A, Aizawa F, Kawame H, Tokutomi T, Fukushima A.

J Hum Genet. 2018 Sep 5. doi: 10.1038/s10038-018-0494-z. [Epub ahead of print]

PMID:
30185949
10.

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

Zombor M, Kalmár T, Maróti Z, Zimmermann A, Máté A, Bereczki C, Sztriha L.

J Hum Genet. 2018 Sep 4. doi: 10.1038/s10038-018-0508-x. [Epub ahead of print]

PMID:
30181650
11.

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.

Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC.

J Hum Genet. 2018 Sep 4. doi: 10.1038/s10038-018-0504-1. [Epub ahead of print]

PMID:
30181649
12.

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment.

Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM.

J Hum Genet. 2018 Sep 3. doi: 10.1038/s10038-018-0502-3. [Epub ahead of print]

PMID:
30177809
13.

A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

Lou X, Shi H, Wen S, Li Y, Wei X, Xie J, Ma L, Yang Y, Fang H, Lyu J.

J Hum Genet. 2018 Aug 23. doi: 10.1038/s10038-018-0505-0. [Epub ahead of print]

PMID:
30140060
14.

Correction: Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan.

Miyake H, Yamada S, Fujii Y, Sawai H, Arimori N, Yamanouchi Y, Ozasa Y, Kanai M, Sago H, Sekizawa A, Takada F, Masuzaki H, Matsubara Y, Hirahara F, Kugu K.

J Hum Genet. 2018 Aug 23. doi: 10.1038/s10038-018-0500-5. [Epub ahead of print]

PMID:
30140059
15.

Admixture mapping and fine-mapping of type 2 diabetes susceptibility loci in African American women.

Uribe-Salazar JM, Palmer JR, Haddad SA, Rosenberg L, Ruiz-Narváez EA.

J Hum Genet. 2018 Aug 22. doi: 10.1038/s10038-018-0503-2. [Epub ahead of print]

PMID:
30135545
16.

Identification of a de novo fetal variant in osteogenesis imperfecta by targeted sequencing-based noninvasive prenatal testing.

Yin X, Du Y, Zhang H, Wang Z, Wang J, Fu X, Cui Y, Chen C, Liang J, Xuan Z, Zhang X.

J Hum Genet. 2018 Aug 21. doi: 10.1038/s10038-018-0489-9. [Epub ahead of print]

PMID:
30131598
17.

Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).

Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, Song X, Lin J, Du R, Zhou Y, Sugimoto M, Chen W, Yuan B, Liu J, Yan Z, Liu B, Zhang Y, Li X, Niu Y, Long B, Shen Y, Zhang S, Abe K, Su J, Wu Z, Wu N, Liu P, Yang X; Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) study.

J Hum Genet. 2018 Aug 16. doi: 10.1038/s10038-018-0496-x. [Epub ahead of print]

PMID:
30115950
18.

Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.

Konstanta I, Fostira F, Apostolou P, Stratikos E, Kalfakakou D, Pampanos A, Kollia P, Papadimitriou C, Konstantopoulou I, Yannoukakos D.

J Hum Genet. 2018 Aug 15. doi: 10.1038/s10038-018-0498-8. [Epub ahead of print]

PMID:
30111881
19.

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.

Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai JI, Yanagi S, Ueda H, Kurosawa K.

J Hum Genet. 2018 Aug 14. doi: 10.1038/s10038-018-0499-7. [Epub ahead of print]

PMID:
30108319
20.

Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A.

Hirai Y, Noda A, Kodama Y, Cordova KA, Cullings HM, Yonehara S, Fujihara M, Moriwaki SI, Nishigori C, Mabuchi K, Kraemer KH, Nakamura N.

J Hum Genet. 2018 Aug 8. doi: 10.1038/s10038-018-0495-y. [Epub ahead of print]

PMID:
30089811

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