Works in Molecular Genetics & Genomic Medicine, 2021, Vol 9, Issue 12

Results: 26

The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1842

By:

Chen, Meiping;
Ke, Xiaoan;
Liang, Hanting;
Gong, Fengying;
Yang, Hongbo;
Wang, Linjie;
Duan, Lian;
Pan, Hui;
Cao, Dongyan;
Zhu, Huijuan

Publication type:

Article

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper‐ and Hypo‐pigmentation (FPHH).

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1841

By:

Gorenjak, Mario;
Fijačko, Nino;
Bogomir Marko, Pij;
Živanović, Milanka;
Potočnik, Uroš

Publication type:

Article

Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1836

By:

Tran Mau‐Them, Frederic;
Duffourd, Yannis;
Vitobello, Antonio;
Bruel, Ange‐Line;
Denommé‐Pichon, Anne‐Sophie;
Nambot, Sophie;
Delanne, Julian;
Moutton, Sebastien;
Sorlin, Arthur;
Couturier, Victor;
Bourgeois, Valentin;
Chevarin, Martin;
Poe, Charlotte;
Mosca‐Boidron, Anne‐Laure;
Callier, Patrick;
Safraou, Hana;
Faivre, Laurence;
Philippe, Christophe;
Thauvin‐Robinet, Christel

Publication type:

Article

Five novel globin gene mutations identified in five Chinese families by next‐generation sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1835

By:

Zhang, Jie;
Xie, Meijuan;
Peng, Zhiyu;
Zhou, Xiaoyan;
Zhao, Tingting;
Jin, Chanchan;
Yan, Yuanlong;
Zeng, Xiaohong;
Li, Dongmei;
Zhang, Yangjia;
Su, Jie;
Feng, Na;
He, Jing;
Yao, Xiangmei;
Lv, Tao;
Zhu, Baosheng

Publication type:

Article

Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1833

By:

Howell, Susan;
Buchanan, Catherine;
Davis, Shanlee M.;
Miyazawa, Heather;
Furuta, Glenn T.;
Tartaglia, Nicole R.;
Nguyen, Nathalie

Publication type:

Article

Gene expression of oxidative stress markers and lung function: A CARDIA lung study.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1832

By:

Ramasubramanian, Ramya;
Kalhan, Ravi;
Jacobs, David R.;
Washko, George R.;
Hou, Lifang;
Gross, Myron D.;
Guan, Weihua;
Thyagarajan, Bharat

Publication type:

Article

Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1831

By:

Dell'Elice, Anastasia;
Cini, Giulia;
Fornasarig, Mara;
Armelao, Franco;
Barana, Daniela;
Bianchi, Francesca;
Casalis Cavalchini, Guido Claudio;
Maffè, Antonella;
Mammi, Isabella;
Pedroni, Monica;
Percesepe, Antonio;
Sorrentini, Italo;
Tibiletti, Mariagrazia;
Maestro, Roberta;
Quaia, Michele;
Viel, Alessandra

Publication type:

Article

Easy and fast PCR‐based protocol allows characterization of breakpoints resulting from Alu/Alu‐mediated genomic rearrangements.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1830

By:

Majer, Filip;
Sikora, Jakub

Publication type:

Article

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1807

By:

Demidov, German;
Park, Joohyun;
Armeanu‐Ebinger, Sorin;
Roggia, Cristiana;
Faust, Ulrike;
Cordts, Isabell;
Blandfort, Maria;
Haack, Tobias B.;
Schroeder, Christopher;
Ossowski, Stephan

Publication type:

Article

Current status of beta‐thalassemia and its treatment strategies.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1788

By:

Ali, Shaukat;
Mumtaz, Shumaila;
Shakir, Hafiz Abdullah;
Khan, Muhammad;
Tahir, Hafiz Muhammad;
Mumtaz, Samaira;
Mughal, Tafail Akbar;
Hassan, Ali;
Kazmi, Syed Akif Raza;
Sadia;
Irfan, Muhammad;
Khan, Muhammad Adeeb

Publication type:

Article

The value of primary transcripts to the clinical and non‐clinical genomics community: Survey results and roadmap for improvements.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1786

By:

Morales, Joannella;
McMahon, Aoife C.;
Loveland, Jane;
Perry, Emily;
Frankish, Adam;
Hunt, Sarah;
Armean, Irina M.;
Flicek, Paul;
Cunningham, Fiona

Publication type:

Article

Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation.

Published in:

2021

By:

Kankuri‐Tammilehto, Minna;
Sauna‐aho, Oili;
Arvio, Maria

Publication type:

Case Study

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1767

By:

Braun, Frederik;
Gangfuß, Andrea;
Stöbe, Petra;
Haack, Tobias B.;
Schweiger, Bernd;
Roos, Andreas;
Schara, Ulrike

Publication type:

Article

Exome sequencing identifies a disease variant of the mitochondrial ATP‐Mg/Pi carrier SLC25A25 in two families with kidney stones.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1749

By:

Jabalameli, M. Reza;
Fitzpatrick, Fiona M.;
Colombo, Roberto;
Howles, Sarah A.;
Leggatt, Gary;
Walker, Valerie;
Wiberg, Akira;
Kunji, Edmund R. S.;
Ennis, Sarah

Publication type:

Article

SUMOylated Senataxin functions in genome stability, RNA degradation, and stress granule disassembly, and is linked with inherited ataxia and motor neuron disease.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1745

By:

Bennett, Craig L.;
La Spada, Albert R.

Publication type:

Article

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Published in:

2021

By:

Acharya, Tanvi;
Firth, Helen V.;
Dugar, Shilpa;
Grammatikopoulos, Tassos;
Seabra, Luis;
Walters, Angharad;
Crow, Yanick J.;
Parker, Alasdair P. J.

Publication type:

Case Study

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders.

Published in:

2021

By:

Kokkonen, Hannaleena;
Siren, Auli;
Määttä, Tuomo;
Kamila Kadlubowska, Magda;
Acharya, Anushree;
Nouel‐Saied, Liz M.;
Leal, Suzanne M.;
Järvelä, Irma;
Schrauwen, Isabelle

Publication type:

Case Study

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT‐like" syndrome in children.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1685

By:

Hodgson, Joshua;
Ruiz‐Llorente, Lidia;
McDonald, Jamie;
Quarrell, Oliver;
Ugonna, Kelechi;
Bentham, James;
Mason, Rebecca;
Martin, Jennifer;
Moore, David;
Bergstrom, Katie;
Bayrak‐Toydemir, Pinar;
Wooderchak‐Donahue, Whitney;
Morrell, Nicholas W.;
Condliffe, Robin;
Bernabeu, Carmelo;
Upton, Paul D.

Publication type:

Article

DNA methylation of tumour necrosis factor (TNF) alpha gene is associated with specific blood fatty acid levels in a gender‐specific manner.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1679

By:

Hussey, Bethan;
Steel, Richard P.;
Gyimah, Boakye;
Reynolds, James C.;
Taylor, Ian M.;
Lindley, Martin R.;
Mastana, Sarabjit

Publication type:

Article

Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1674

By:

Islam, Sumaya;
Tekman, Mehmet;
Flanagan, Sarah E.;
Guay‐Woodford, Lisa;
Hussain, Khalid;
Ellard, Sian;
Kleta, Robert;
Bockenhauer, Detlef;
Stanescu, Horia;
Iancu, Daniela

Publication type:

Article

Panel‐based genetic testing for inherited retinal disease screening 176 genes.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1663

By:

Sheck, Leo H. N.;
Esposti, Simona D.;
Mahroo, Omar A.;
Arno, Gavin;
Pontikos, Nikolas;
Wright, Genevieve;
Webster, Andrew R.;
Khan, Kamron N.;
Michaelides, Michel

Publication type:

Article

Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1631

By:

N. Abdel‐Aziz, Nahla;
Y. El‐Kamah, Ghada;
A. Khairat, Rabab;
R. Mohamed, Hanan;
Z. Gad, Yehia;
El‐Ghor, Akmal M.;
Amr, Khalda S.

Publication type:

Article

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran.

Published in:

2021

By:

Yousefipour, Farideh;
Mozhdehipanah, Hossein;
Mahjoubi, Frouzandeh

Publication type:

Case Study

Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1603

By:

Barroso‐Gil, Miguel;
Olinger, Eric;
Ramsbottom, Simon A.;
Molinari, Elisa;
Miles, Colin G.;
Sayer, John A.

Publication type:

Article

Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1581

By:

Papathanasiou, Maria;
Carpinteiro, Alexander;
Kersting, David;
Jakstaite, Aiste‐Monika;
Hagenacker, Tim;
Schlosser, Thomas‐Wilfried;
Rischpler, Christoph;
Rassaf, Tienush;
Luedike, Peter

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1334
Publication type:: Article