Works matching IS 2324-9269 AND VI 11 AND IP 12 AND DT 2023

Results: 21

Gonadoblastoma in Turner syndrome with puberty delay: A case report and literature review.

Published in:

2023

By:

Shen, Wei;
Li, Ya

Publication type:

Case Study

Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2276

By:

Zhao, Tianxue;
Xu, Shaokun;
Liu, Siyue;
Xu, Juan;
Zhang, Xianfeng;
Zhan, Yuhong

Publication type:

Article

New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2275

By:

Reinhold, Vivian;
Syrjänen, Stina;
Kankuri‐Tammilehto, Minna

Publication type:

Article

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2273

By:

Zhao, Wenjing;
Zhang, Yinhong;
Lv, Tao;
He, Jing;
Zhu, Baosheng

Publication type:

Article

Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2272

By:

Ford, Cara P.;
Littlejohn, Rebecca O.;
German, Ryan;
Vuocolo, Blake;
Aceves, Jose;
Vossaert, Liesbeth;
Owen, Nichole;
Wangler, Michael;
Schmid, Carrie A.

Publication type:

Article

A somatic splice‐site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case report.

Published in:

2023

By:

Wilke, Matheus V. M. B.;
Schimmenti, Lisa;
Lopour, Madeline Q. R.;
Tollefson, Megha M.;
Klee, Eric W.

Publication type:

Case Study

A new line method; A direct test in spinal muscular atrophy screening for DBS.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2270

By:

Kubar, Ayhan;
Temel, Sehime Gülsüm;
Beken, Serdar;
Onder, Gizem;
Hatirnaz, Ozden;
Korkmaz, Ayse;
Alanay, Yasemin;
Ozbek, Ugur;
Sag, Sebnem Ozemri;
Ergoren, Mahmut Cerkez;
Kubar, Elif;
Sonmezalp, Candan Zeynep;
Doğan, Ozlem

Publication type:

Article

Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutations.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2269

By:

Jiang, Liangliang;
Bi, Shaohua;
Lin, Li;
He, Fan;
Deng, Fang

Publication type:

Article

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2268

By:

Zhang, Yongli;
Bi, Shaohua;
Dai, Liying;
Zhao, Yuwei;
Liu, Yu;
Shi, Zifeng

Publication type:

Article

Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2267

By:

Wang, Yaoyao;
Wang, Lina;
Chen, Xiaoying;
Liu, Shiguo;
Han, Wei;
Yu, Xinjuan;
Cao, Xipeng;
Liu, Xiuxiang;
Wang, Jiahui

Publication type:

Article

Clinical heterogeneity of polish patients with KAT6B–related disorder.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2265

By:

Magdalena, Klaniewska;
Anna, Bolanowska‐Tyszko;
Anna, Latos‐Bielenska;
Aleksandra, Jezela‐Stanek;
Krzysztof, Szczaluba;
Malgorzata, Krajewska‐Walasek;
Elzbieta, Ciara;
Magdalena, Pelc;
Dorota, Jurkiewicz;
Piotr, Stawinski;
Agnieszka, Zubkiewicz‐Kucharska;
Małgorzata, Rydzanicz;
Rafal, Ploski;
Robert, Smigiel

Publication type:

Article

First‐time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2264

By:

Schlaich, Elia;
Hubens, Wouter H. G.;
Eggermann, Thomas

Publication type:

Article

In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2263

By:

Pham, Hung Manh;
Nguyen, Duy Phuong;
Ta, Thanh Dat;
Le, Thi Phuong;
Phan, Phong Hai;
Trinh, Hoai An;
Tran, Tuan Viet;
Luong, Thi Lan Anh;
Nguyen, Ha Minh;
Bui, The‐Hung;
Tran, Thinh Huy;
Ta, Thanh Van;
Tran, Van‐Khanh

Publication type:

Article

Caregiver‐based perception of disease burden in Schaaf‐Yang syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2262

By:

Dötsch, Laura;
Matesevac, Lisa;
Strong, Theresa V.;
Schaaf, Christian P.

Publication type:

Article

A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2261

By:

Mir, Atefeh;
Song, Yongjun;
Lee, Hane;
Montazer‐Zohouri, Mostafa;
Reisi, Marziyeh;
Tabatabaiefar, Mohammad Amin

Publication type:

Article

Promoter hypermethylation of RARB and GSTP1 genes in plasma cell‐free DNA as breast cancer biomarkers in Peruvian women.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2260

By:

Danos, Pierina;
Giannoni‐Luza, Stefano;
Murillo Carrasco, Alexis Germán;
Acosta, Oscar;
Guevara‐Fujita, Maria Luisa;
Cotrina Concha, José Manuel;
Guerra Miller, Henry;
Pinto Oblitas, Joseph;
Aguilar Cartagena, Alfredo;
Araujo, Jhajaira M.;
Fujita, Ricardo;
Buleje Sono, José Luis

Publication type:

Article

A novel pathogenic variant located just upstream of the C‐terminal Ser423‐X‐Ser425 phosphorylation motif in SMAD3 causing Loeys–Dietz syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2257

By:

Ishii, Satoshi;
Fujiwara, Takayuki;
Yagi, Hiroki;
Takeda, Norifumi;
Ando, Masahiko;
Yamauchi, Haruo;
Inuzuka, Ryo;
Taniguchi, Yuki;
Hatano, Masaru;
Komuro, Issei

Publication type:

Article

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256

By:

Alabdulrazzaq, Fatima;
Alanzi, Talal;
Al‐Balool, Haya H.;
Gardham, Alice;
Wakeling, Emma;
Leitch, Harry G.;
AlSayed, Moeenaldeen;
Abdulrahim, Maha;
Aladwani, Abdulaziz;
Romito, Antonio;
Kampe, Kapil;
Ferdinandusse, Sacha;
Aboelanine, Ashraf H.;
Abdullah, Amira;
Alwadani, Amal;
Bastaki, Laila;
Vaz, Frédéric M.;
Bertoli‐Avella, Aida M.;
Marafi, Dana

Publication type:

Article

Rare functional variants in the CRP and G6PC genes modify the relationship between obesity and serum C‐reactive protein in white British population.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2255

By:

Li, Xia;
Ploner, Alexander;
Wang, Yunzhang;
Mak, Jonathan K. L.;
Lu, Yi;
Magnusson, Patrik K. E.;
Jylhävä, Juulia;
Hägg, Sara

Publication type:

Article

Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2184

By:

Ibrahim, Faisal;
Velayutham, Dinesh;
Alsharshani, Mohamed;
AlAlami, Usama;
AlDewik, Manar;
Abuarja, Tala;
Al Rifai, Hilal;
Al‐Dewik, Nader I.

Publication type:

Article

Issue Information.

Published in:: Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.1984
Publication type:: Article