Works in Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 3

Results: 21

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1620

By:

Markova, Tatiana;
Sparber, Peter;
Borovikov, Artem;
Nagornova, Tatiana;
Dadali, Elena

Publication type:

Article

Vitamin D status and CYP27B1‐1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1618

By:

Fakhfakh, Raouia;
Feki, Sawsan;
Elleuch, Aida;
Neifar, Manel;
Marzouk, Sameh;
Elloumi, Nesrine;
Hachicha, Hend;
Abida, Olfa;
Bahloul, Zouhir;
Ayadi, Fatma;
Masmoudi, Hatem

Publication type:

Article

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1617

By:

Yu, Yinhui;
Qiao, Yue;
Ye, Yang;
Li, Jinyu;
Yao, Ke

Publication type:

Article

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1605

By:

Huang, Xiuzhu;
Chen, Jieping;
Hu, Wenlong;
Li, Lu;
He, Huiyan;
Guo, Hui;
Liao, Qiuyan;
Ye, Mei;
Tang, Donge;
Dai, Yong

Publication type:

Article

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1615

By:

Kengne Kamga, Karen;
Munung, Nchangwi Syntia;
Nguefack, Séraphin;
Wonkam, Ambroise;
De Vries, Jantina

Publication type:

Article

The Rh blood group system and its role in alloimmunization rate among sickle cell disease and sickle thalassemia patients in Iran.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1614

By:

Jalali Far, Mohammad Ali;
Oodi, Arezoo;
Amirizadeh, Naser;
Mohammadipour, Mahshid;
Keikhaei Dehdezi, Bijan

Publication type:

Article

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1607

By:

Haberlandt, Edda;
Valovka, Taras;
Janjic, Tanja;
Müller, Thomas;
Blatsios, Georgios;
Karall, Daniela;
Janecke, Andreas R.

Publication type:

Article

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1609

By:

Wonkam, Ambroise;
Lebeko, Kamogelo;
Mowla, Shaheen;
Noubiap, Jean Jacques;
Chong, Mike;
Pare, Guillaume

Publication type:

Article

A novel Xp11.22–22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1606

By:

Liu, Jingwei;
Wang, Kelai;
Li, Baomin;
Yang, Xiaofan

Publication type:

Article

A novel SPINK5 donor splice site variant in a child with Netherton syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1611

By:

Mintoff, Dillon;
Borg, Isabella;
Vornweg, Julia;
Mercieca, Liam;
Merdzanic, Rijad;
Numrich, Johannes;
Aquilina, Susan;
Pace, Nikolai Paul;
Fischer, Judith

Publication type:

Article

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1604

By:

Peng, Ying;
Yang, Shuting;
Xi, Hui;
Hu, Jiancheng;
Jia, Zhengjun;
Pang, Jialun;
Liu, Jing;
Yu, Wenxian;
Tang, Chengyuan;
Wang, Hua

Publication type:

Article

A rare gene variation cap +1 (A>C) (HBB: c. −50A>C) associated with codon 5 (‐CT) (HBB: c.17_18delCT) mutation in Syrian family.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1602

By:

Murad, Hossam;
Moassas, Faten;
Fakseh, Nour A. L.

Publication type:

Article

Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1601

By:

Zhang, Xiao;
Zhang, Dan;
Thompson, Jennifer A.;
Chen, Shang‐Chih;
Huang, Zhiqin;
Jennings, Luke;
McLaren, Terri L.;
Lamey, Tina M.;
De Roach, John N.;
Chen, Fred K.;
McLenachan, Samuel

Publication type:

Article

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1600

By:

Zhang, Zhen;
Pan, Chaolan;
Wei, Ruoqu;
Li, Huaguo;
Yang, Yijun;
Chen, Jiawen;
Li, Ming;
Yao, Zhirong

Publication type:

Article

BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1594

By:

Bednarek, Marcin;
Trybus, Marek;
Kolanowska, Monika;
Koziej, Mateusz;
Kiec‐Wilk, Beata;
Dobosz, Artur;
Kotlarek‐Łysakowska, Marta;
Kubiak‐Dydo, Anna;
Użarowska‐Gąska, Ewelina;
Staręga‐Rosłan, Julia;
Gaj, Paweł;
Górzyńska, Izabela;
Serwan, Katarzyna;
Świerniak, Michał;
Kot, Adam;
Jażdżewski, Krystian;
Wójcicka, Anna

Publication type:

Article

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1593

By:

Slynko, Inna;
Nguyen, Stephanie;
Hamilton, Eline M. C.;
Wisse, Lisanne E.;
Esch, Iwan J. P.;
Graaf, Chris;
Bruning, John B.;
Proud, Christopher G.;
Abbink, Truus E. M.;
Knaap, Marjo S.

Publication type:

Article

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559

By:

Ferreira, Filipa;
Azevedo, Luísa;
Neiva, Raquel;
Sousa, Carmen;
Fonseca, Helena;
Marcão, Ana;
Rocha, Hugo;
Carmona, Célia;
Ramos, Sónia;
Bandeira, Anabela;
Martins, Esmeralda;
Campos, Teresa;
Rodrigues, Esmeralda;
Garcia, Paula;
Diogo, Luísa;
Ferreira, Ana Cristina;
Sequeira, Silvia;
Silva, Francisco;
Rodrigues, Luísa;
Gaspar, Ana

Publication type:

Article

Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1527

By:

Ahmed, Sagheer;
Khan, Saeed;
Janjua, Kholood;
Imran, Imran;
Khan, Arif Ullah

Publication type:

Article

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1592

By:

Capkova, Zuzana;
Capkova, Pavlina;
Srovnal, Josef;
Adamova, Katerina;
Prochazka, Martin;
Hajduch, Marian

Publication type:

Article

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1494

By:

Kim, Sun Young;
Ing, Alexander;
Gong, Shunyou;
Yap, Kai Lee;
Bhat, Rukhmi

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1325
Publication type:: Article