Works matching AU Anazi, Shams

Results: 8

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 12, p. 3307, doi. 10.1093/hmg/ddu044

By:

Aldahmesh, Mohammed A.;
Li, Yuanyuan;
Alhashem, Amal;
Anazi, Shams;
Alkuraya, Hisham;
Hashem, Mais;
Awaji, Ali A.;
Sogaty, Sameera;
Alkharashi, Abdullah;
Alzahrani, Saeed;
Al Hazzaa, Selwa A.;
Xiong, Yong;
Kong, Shanshan;
Sun, Zhaoxia;
Alkuraya, Fowzan S.

Publication type:

Article

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Published in:

Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481

By:

Alshenaifi, Jumanah;
Ewida, Nour;
Anazi, Shams;
Shamseldin, Hanan E.;
Patel, Nisha;
Maddirevula, Sateesh;
Al‐Sheddi, Tarfa;
Alomar, Rana;
Alobeid, Eman;
Ibrahim, Niema;
Hashem, Mais;
Abdulwahab, Firdous;
Jacob, Minnie;
Alhashem, Amal;
Alzaidan, Hamad I.;
Seidahmed, Mohammed Z.;
Alhashemi, Nadia;
Rawashdeh, Rifaat;
Eyaid, Wafaa;
Al‐Hassnan, Zuhair N.

Publication type:

Article

Elsahy–Waters syndrome is caused by biallelic mutations in <italic>CDH11</italic>.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 477, doi. 10.1002/ajmg.a.38568

By:

Harms, Frederike L.;
Nampoothiri, Sheela;
Anazi, Shams;
Yesodharan, Dhanya;
Alawi, Malik;
Kutsche, Kerstin;
Alkuraya, Fowzan S.

Publication type:

Article

Novel copy number variants and major limb reduction malformation: Report of three cases.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1245, doi. 10.1002/ajmg.a.37550

By:

Shamseldin, Hanan E.;
Anazi, Shams;
Wakil, Salma M.;
Faqeih, Eissa;
El Khashab, Heba Y.;
Salih, Mustafa A.;
Al‐Qattan, Mohammad M.;
Hashem, Mais;
Alsedairy, Haifa;
Alkuraya, Fowzan S.

Publication type:

Article

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Published in:

2018

By:

Nahorski, Michael S.;
Maddirevula, Sateesh;
Ryosuke Ishimura;
Alsahli, Saud;
Brady, Angela F.;
Begemann, Anaïs;
Tsunehiro Mizushima;
Guzmán-Vega, Francisco J.;
Miki Obata;
Yoshinobu Ichimura;
Alsaif, Hessa S.;
Anazi, Shams;
Ibrahim, Niema;
Abdulwahab, Firdous;
Hashem, Mais;
Monies, Dorota;
Abouelhoda, Mohamed;
Meyer, Brian F.;
Alfadhel, Majid;
Eyaid, Wafa

Publication type:

journal article

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Published in:

2018

By:

Anazi, Shams;
Maddirevula, Sateesh;
Salpietro, Vincenzo;
Asi, Yasmine T.;
Alsahli, Saud;
Alhashem, Amal;
Shamseldin, Hanan E.;
AlZahrani, Fatema;
Patel, Nisha;
Ibrahim, Niema;
Abdulwahab, Firdous M.;
Hashem, Mais;
Alhashmi, Nadia;
Al Murshedi, Fathiya;
Al Kindy, Adila;
Alshaer, Ahmad;
Rumayyan, Ahmed;
Al Tala, Saeed;
Kurdi, Wesam;
Alsaman, Abdulaziz

Publication type:

Correction Notice

Expanding the genetic heterogeneity of intellectual disability.

Published in:

Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2

By:

Anazi, Shams;
Maddirevula, Sateesh;
Salpietro, Vincenzo;
Asi, Yasmine;
Alsahli, Saud;
Alhashem, Amal;
Shamseldin, Hanan;
AlZahrani, Fatema;
Patel, Nisha;
Ibrahim, Niema;
Abdulwahab, Firdous;
Hashem, Mais;
Alhashmi, Nadia;
Al Murshedi, Fathiya;
Al Kindy, Adila;
Alshaer, Ahmad;
Rumayyan, Ahmed;
Al Tala, Saeed;
Kurdi, Wesam;
Alsaman, Abdulaziz

Publication type:

Article

A null mutation in TNIK defines a novel locus for intellectual disability.

Published in:

Human Genetics, 2016, v. 135, n. 7, p. 773, doi. 10.1007/s00439-016-1671-9

By:

Anazi, Shams;
Shamseldin, Hanan;
AlNaqeb, Dhekra;
Abouelhoda, Mohamed;
Monies, Dorota;
Salih, Mustafa;
Al-Rubeaan, Khalid;
Alkuraya, Fowzan

Publication type:

Article