Works in Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 7

Results: 22

Cover.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1778

By:

Cheng, Chen;
Zhao, Sheng;
Zhu, Xia;
Yang, Fan;
Wang, Weiyun;
Feng, Qian;
Liu, Ya;
Huang, Hui;
Chen, Xinlin

Publication type:

Article

Identification of novel mutation in RANKL by whole‐exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1727

By:

Lertwilaiwittaya, Pongtawat;
Suktitipat, Bhoom;
Khongthon, Phongphak;
Pongsapich, Warut;
Limwongse, Chanin;
Pithukpakorn, Manop

Publication type:

Article

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1726

By:

Shapiro, Adam J.;
Kaspy, Kimberley;
Daniels, M. Leigh Ann;
Stonebraker, Jaclyn R.;
Nguyen, Van‐Hung;
Joyal, Lyne;
Knowles, Michael R.;
Zariwala, Maimoona A.

Publication type:

Article

CHL1 deletion is associated with cognitive and language disabilities – Case report and review of literature.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1725

By:

Tsuboyama, Melissa;
Iqbal, Mohammed Anwar

Publication type:

Article

Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1711

By:

Xi, Hui;
Xie, Wanqin;
Chen, Jing;
Tang, Wanglan;
Deng, Xiuli;
Li, Hua;
Peng, Ying;
Wang, Dan;
Yang, Shuting;
Zhang, Yanan;
Duan, Ranhui;
Fang, Junqun;
Wang, Hua

Publication type:

Article

The VANGL1 P384R variant cause both neural tube defect and Klippel‐Feil syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1710

By:

Cheng, Chen;
Zhao, Sheng;
Zhu, Xia;
Yang, Fan;
Wang, Weiyun;
Feng, Qian;
Liu, Ya;
Huang, Hui;
Chen, Xinlin

Publication type:

Article

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1709

By:

Al‐Shafai, Kholoud N.;
Al‐Hashemi, Mohammed;
Manickam, Chidambaram;
Musa, Rania;
Selvaraj, Senthil;
Syed, Najeeb;
Vempalli, Fazulur;
Ali, Muneera;
Yacoub, Magdi;
Estivill, Xavier

Publication type:

Article

In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1707

By:

Alzahrani, Faisal A.;
Hawsawi, Yousef MohammedRabaa;
Altayeb, Hisham N.;
Alsiwiehri, Naif O.;
Alzahrani, Othman R.;
Alatwi, Hanan E.;
Al‐Amer, Osama M.;
Alomar, Suliman;
Mansour, Lamjed

Publication type:

Article

A De Novo case of autosomal dominant mitochondrial membrane protein‐associated neurodegeneration.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1706

By:

Fraser, Stuart;
Koenig, Mary;
Farach, Laura;
Mancias, Pedro;
Mowrey, Kate

Publication type:

Article

The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1705

By:

Alwan, Ahmad Mohammed;
Afzaljavan, Fahimeh;
Tavakol Afshari, Jalil;
Homaei Shandiz, Fatemeh;
Barati Bagherabad, Matineh;
Vahednia, Elham;
Kheradmand, Nahid;
Pasdar, Alireza

Publication type:

Article

LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1704

By:

Wang, Xiaoyuan;
Xiao, Huijie;
Su, Baige;
Ren, Yali;
Ding, Jie;
Wang, Fang

Publication type:

Article

Preparing genomic revolution: Attitudes, clinical practice, and training needs in delivering genetic counseling in primary care in Hong Kong and Shenzhen, China.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1702

By:

Yu, Man Wai Cecilia;
Fung, Jasmine Lee Fong;
Ng, Amy Pui Pui;
Li, Zhuo;
Lan, Wang;
Chung, Claudia Ching Yan;
Li, Yang;
Liu, Ying;
Chung, Brian H. Y.;
Wong, William Chi Wai

Publication type:

Article

Blood group genotyping in alloimmunized multi‐transfused thalassemia patients from Iran.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1701

By:

Sarihi, Reyhaneh;
Oodi, Arezoo;
Dadkhah Tehrani, Raziyeh;
Jalali, Seyedeh Farzaneh;
Mardani, Fahimeh;
Azarkeivan, Azita;
Gudarzi, Samira;
Amirizadeh, Naser

Publication type:

Article

Genetic polymorphism of vitamin D receptors and plasminogen activator inhibitor‐1 and osteonecrosis risk in childhood acute lymphoblastic leukemia.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1700

By:

Sherief, Laila M.;
Beshir, Mohamed;
Raafat, Nermin;
Abdelkhalek, Elhamy R.;
Mokhtar, Wesam A.;
Elgerby, Khaled M.;
Soliman, Basma K.;
Salah, Hosam E.;
Mokhtar, Ghada A.;
Kamal, Naglaa M.;
ELsayed, Heba;
Zakaria, Marwa

Publication type:

Article

Genetic variations in DNA repair gene NEIL1 associated with radiation pneumonitis risk in lung cancer patients.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1698

By:

Zheng, Yuming;
Zheng, Leizhen;
Yu, Jiahua;
Jiang, Mawei;
Zhang, Songfang;
Cai, Xuwei;
Zhu, Meiling

Publication type:

Article

Hyperhaemolysis in a pregnant woman with a homozygous β<sup>0</sup>‐thalassemia mutation and two genetic modifiers.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1696

By:

Jiwu, Lou;
Manna, Sun;
Lai, Meixiang;
Ying, Zhao;
Yanhui, Liu

Publication type:

Article

Polymorphisms in the CYP2A6 and ABCC4 genes are associated with a protective effect on chronic myeloid leukemia in the Brazilian Amazon population.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1694

By:

Monte, Natasha;
Pantoja, Karla B. C. C.;
Rodrigues, Juliana C. G.;
de Carvalho, Darlen C.;
Azevedo, Tereza C. B.;
Pereira, Esdras E. B.;
de Assumpção, Paulo P.;
dos Santos, Sidney E. B.;
Fernandes, Marianne R.;
dos Santos, Ney P. C.

Publication type:

Article

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1693

By:

Thompson, Ashley S.;
Saba, Nusrat;
McReynolds, Lisa J.;
Munir, Saeeda;
Ahmed, Parvez;
Sajjad, Sumaira;
Jones, Kristine;
Yeager, Meredith;
Donovan, Frank X.;
Chandrasekharappa, Settara C.;
Alter, Blanche P.;
Savage, Sharon A.;
Rehman, Sadia

Publication type:

Article

A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1686

By:

Yu, Hui;
He, Xun;
Liu, Xiangqin;
Zhang, Houbin;
Shen, Zhu;
Shi, Yi;
Liu, Xiaoqi

Publication type:

Article

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1665

By:

Cope, Heidi;
Barseghyan, Hayk;
Bhattacharya, Surajit;
Fu, Yulong;
Hoppman, Nicole;
Marcou, Cherisse;
Walley, Nicole;
Rehder, Catherine;
Deak, Kristen;
Alkelai, Anna;
Vilain, Eric;
Shashi, Vandana;
Acosta, Maria T;
Adam, Margaret;
Adams, David R;
Agrawal, Pankaj B;
Alejandro, Mercedes E;
Alvey, Justin;
Amendola, Laura;
Andrews, Ashley

Publication type:

Article

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1623

By:

Friedman, Jennifer;
Bird, Lynne M.;
Haas, Richard;
Robbins, Shira L.;
Nahas, Shareef A.;
Dimmock, David P.;
Yousefzadeh, Matthew J.;
Witt, Mariah A.;
Niedernhofer, Laura J.;
Chowdhury, Shimul

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1329
Publication type:: Article