Works matching IS 03406717 AND DT 2019 AND VI 138 AND IP 10

Results: 11

GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1183, doi. 10.1007/s00439-019-02057-x

By:

Ouyang, Qing;
Kavanaugh, Brian C.;
Joesch-Cohen, Lena;
Dubois, Bethany;
Wu, Qing;
Schmidt, Michael;
Baytas, Ozan;
Pastore, Stephen F.;
Harripaul, Ricardo;
Mishra, Sasmita;
Hussain, Abrar;
Kim, Katherine H.;
Holler-Managan, Yolanda F.;
Ayub, Muhammad;
Mir, Asif;
Vincent, John B.;
Liu, Judy S.;
Morrow, Eric M.

Publication type:

Article

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1105, doi. 10.1007/s00439-019-02042-4

By:

Kitzler, Thomas M.;
Schneider, Ronen;
Kohl, Stefan;
Kolvenbach, Caroline M.;
Connaughton, Dervla M.;
Dai, Rufeng;
Mann, Nina;
Nakayama, Makiko;
Majmundar, Amar J.;
Wu, Chen-Han W.;
Kari, Jameela A.;
El Desoky, Sherif M.;
Senguttuvan, Prabha;
Bogdanovic, Radovan;
Stajic, Natasa;
Valivullah, Zaheer;
Lek, Monkol;
Mane, Shrikant;
Lifton, Richard P.;
Tasic, Velibor

Publication type:

Article

Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1171, doi. 10.1007/s00439-019-02050-4

By:

Waksmunski, Andrea R.;
Igo, Robert P.;
Song, Yeunjoo E.;
Cooke Bailey, Jessica N.;
Laux, Renee;
Fuzzell, Denise;
Fuzzell, Sarada;
Adams, Larry D.;
Caywood, Laura;
Prough, Michael;
Stambolian, Dwight;
Scott, William K.;
Pericak-Vance, Margaret A.;
Haines, Jonathan L.

Publication type:

Article

Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1155, doi. 10.1007/s00439-019-02049-x

By:

Hatchell, Kathryn E.;
Lu, Qiongshi;
Hebbring, Scott J.;
Michos, Erin D.;
Wood, Alexis C.;
Engelman, Corinne D.

Publication type:

Article

The rare 13q33–q34 microdeletions: eight new patients and review of the literature.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1145, doi. 10.1007/s00439-019-02048-y

By:

Sagi-Dain, Lena;
Goldberg, Yael;
Peleg, Amir;
Sukenik-Halevy, Rivka;
Sofrin-Drucker, Efrat;
Appelman, Zvi;
Josefsberg, Ben Yehoshua Sagi;
Ben-Shachar, Shay;
Vinkler, Chana;
Basel-Salmon, Lina;
Maya, Idit

Publication type:

Article

Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1123, doi. 10.1007/s00439-019-02045-1

By:

Ceballos, Francisco C.;
Hazelhurst, Scott;
Ramsay, Michèle

Publication type:

Article

Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories.

Published in:

2019

By:

Ceballos, Francisco C.;
Hazelhurst, Scott;
Ramsay, Michèle

Publication type:

Correction Notice

Autosomal recessive diseases among the Israeli Arabs.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1117, doi. 10.1007/s00439-019-02043-3

By:

Zlotogora, Joël

Publication type:

Article

Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1091, doi. 10.1007/s00439-019-02041-5

By:

Chen, Hongjie;
Kichaev, Gleb;
Bien, Stephanie A.;
MacDonald, James W.;
Wang, Lu;
Bammler, Theo K.;
Auer, Paul;
Pasaniuc, Bogdan;
Lindström, Sara

Publication type:

Article

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1077, doi. 10.1007/s00439-019-02039-z

By:

Xiao, Xueshan;
Sun, Wenmin;
Ouyang, Jiamin;
Li, Shiqiang;
Jia, Xiaoyun;
Tan, Zhiqun;
Hejtmancik, J. Fielding;
Zhang, Qingjiong

Publication type:

Article

A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.

Published in:

Human Genetics, 2019, v. 138, n. 10, p. 1071, doi. 10.1007/s00439-019-02037-1

By:

Sineni, Claire J.;
Yildirim-Baylan, Muzeyyen;
Guo, Shengru;
Camarena, Vladimir;
Wang, Gaofeng;
Tokgoz-Yilmaz, Suna;
Duman, Duygu;
Bademci, Guney;
Tekin, Mustafa

Publication type:

Article