Works matching IS 1178704X AND DT 2021 AND VI 14

Results: 37

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 467, doi. 10.2147/TACG.S344107

By:

Trieutien, Sang;
Van, Tam Vu;
Thao, My Tran Ngoc;
The, Son Trinh;
Van, Khoa Tran;
Thanh, Tung Nguyen;
Van, Tuan Tran;
Thi, Hanh Nguyen

Publication type:

Article

First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 473, doi. 10.2147/TACG.S323559

By:

Olave-Rodriguez, Jorge Andres;
Bonilla-Escobar, Francisco Javier;
Candelo, Estephania;
Rodriguez-Rojas, Lisa Ximena

Publication type:

Article

The Clinical Genetics of Hemophilia B (Factor IX Deficiency).

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 445, doi. 10.2147/TACG.S288256

By:

Miller, Connie H

Publication type:

Article

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 455, doi. 10.2147/TACG.S295157

By:

Jelsig, Anne Marie;
Byrjalsen, Anna;
Madsen, Majbritt Busk;
Kuhlmann, Tine Plato;
van Overeem Hansen, Thomas;
Wadt, Karin AW;
Karstensen, John Gásdal

Publication type:

Article

Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 363, doi. 10.2147/TACG.S213920

By:

Sudhakar, Murugan;
Rikhi, Rashmi;
Loganathan, Sathish Kumar;
Suri, Deepti;
Singh, Surjit

Publication type:

Article

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 409, doi. 10.2147/TACG.S317723

By:

Aristizábal, Erica;
Diaz-Ordóñez, Lorena;
Candelo, Estephania;
Pachajoa, Harry

Publication type:

Article

Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 399, doi. 10.2147/TACG.S317721

By:

Triana-Fonseca, Paula;
Parada-Márquez, Juan Fernando;
Silva-Aldana, Claudia T;
Zambrano-Arenas, Daniela;
Arias-Gomez, Laura Lucia;
Morales-Fonseca, Natalia;
Medina-Méndez, Esteban;
Restrepo, Carlos M;
Silgado-Guzmán, Daniel Felipe;
Fonseca-Mendoza, Dora Janeth

Publication type:

Article

Genetic Testing in CYLD Cutaneous Syndrome: An Update.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 427, doi. 10.2147/TACG.S288274

By:

Nagy, Nikoletta;
Dubois, Anna;
Szell, Marta;
Rajan, Neil

Publication type:

Article

Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in MAP2K1 – Case Study.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 389, doi. 10.2147/TACG.S316215

By:

Kosztyła-Hojna, Bożena;
Borys, Jan;
Zdrojkowski, Maciej;
Duchnowska, Emilia;
Kraszewska, Anna;
Wasilewska, Daria;
Zweier, Christiane;
Midro, Alina Teresa

Publication type:

Article

Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 417, doi. 10.2147/TACG.S323735

By:

Kaleta, Beata;
Lachota, Mieszko;
Łukaszkiewicz, Jacek;
Woźniacka, Anna;
Bogaczewicz, Jarosław

Publication type:

Article

Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 353, doi. 10.2147/TACG.S269622

By:

Kowdley, Devan S;
Kowdley, Kris V

Publication type:

Article

Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 313, doi. 10.2147/TACG.S318884

By:

The, Son Trinh;
Tien, Sang Trieu;
Van, Tam Vu;
Ngoc, Nhat Nguyen;
Thao, My Tran Ngoc;
Van, Khoa Tran;
Nhat, Dinh Vu;
Nhu, Binh Do

Publication type:

Article

Evaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 331, doi. 10.2147/TACG.S319065

By:

ALrefai, Abeer;
Dawood, Ashraf;
Shehata, Wafaa;
Elhelbawy, Mohammed;
Elhelbawy, Nesreen

Publication type:

Article

ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 341, doi. 10.2147/TACG.S318912

By:

Boonyawat, Boonchai;
Monsereenusorn, Chalinee;
Photia, Apichat;
Lertvivatpong, Nawachai;
Kaewchaivijit, Varissara;
Jindatanmanusan, Punyanuch;
Rujkijyanont, Piya

Publication type:

Article

Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 321, doi. 10.2147/TACG.S320778

By:

Papas, Ralph S;
Kutteh, William H

Publication type:

Article

Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 305, doi. 10.2147/TACG.S265835

By:

Payán-Gómez, César;
Ramirez-Cheyne, Julian;
Saldarriaga, Wilmar

Publication type:

Article

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 267, doi. 10.2147/TACG.S280066

By:

Candelo, Estephania;
Estrada-Mesa, Maria Alejandra;
Jaramillo, Adriana;
Martinez-Cajas, Carlos Humberto;
Osorio, Julio Cesar;
Pachajoa, Harry

Publication type:

Article

NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 297, doi. 10.2147/TACG.S303668

By:

Headriawan, Achmad;
Pramono, Alvinsyah Adhityo;
Sukadi, Abdurachman;
Chairulfatah, Alex;
Maskoen, Ani Melani;
Nataprawira, Heda Melinda

Publication type:

Article

Mutations Involved in Premature-Ageing Syndromes.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 279, doi. 10.2147/TACG.S273525

By:

Coppedè, Fabio

Publication type:

Article

A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 255, doi. 10.2147/TACG.S261737

By:

King, Bradley;
McHugh, Jana;
Snape, Katie

Publication type:

Article

Pseudo-Meigs' Syndrome in Tunisian H Syndrome Female Patient: First Case Reported.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 235, doi. 10.2147/TACG.S306298

By:

Zaimi, Yosra;
Ayari, Myriam;
Mensi, Asma;
Kacem, Linda Bel Hadj;
Achouri, Leila;
Bouzrara, Meriem;
Said, Yosra;
Mouelhi, Leila;
Debbeche, Radhouane

Publication type:

Article

GM1 Gangliosidosis: Mechanisms and Management.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 209, doi. 10.2147/TACG.S206076

By:

Rha, Allisandra K;
Maguire, Anne S;
Martin, Douglas R

Publication type:

Article

Genetic Predictors of Mortality in Patients with Multiple Myeloma.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 241, doi. 10.2147/TACG.S262866

By:

Hassan, Hamza;
Szalat, Raphael

Publication type:

Article

The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 195, doi. 10.2147/TACG.S245029

By:

Sirkis, Daniel W;
Bonham, Luke W;
Yokoyama, Jennifer S

Publication type:

Article

The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 125, doi. 10.2147/TACG.S299349

By:

Nayel, Dalia Mostafa;
Mahrous, Hanan Salah El Din;
Khalifa, Emad El Din;
Kholeif, Soha;
Elhady, Ghada Mohamed

Publication type:

Article

Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 113, doi. 10.2147/TACG.S260755

By:

Egom, Emmanuel Eroume-A;
Moyou-Somo, Roger;
Oyono, Jean Louis Essame;
Kamgang, Rene

Publication type:

Article

Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 173, doi. 10.2147/TACG.S257511

By:

Seixas, Susana;
Marques, Patricia Isabel

Publication type:

Article

Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 145, doi. 10.2147/TACG.S252736

By:

Dorschel, Kirsten B;
Wanebo, John E

Publication type:

Article

Greig Cephalopolysyndactyly (GCPS) Contiguous Gene Syndrome in a Boy with a 14 Mb Deletion in Region 7p13-14 Caused by a Paternal Balanced Insertion (5; 7) [Expression of Concern].

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 87, doi. 10.2147/TACG.S307411

By:

Schulz, Solveig;
Volleth, Marianne;
Muschke, Petra;
Wieland, Isle;
Wieacker, Peter

Publication type:

Article

Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 89, doi. 10.2147/TACG.S274884

By:

Kondkar, Altaf A

Publication type:

Article

A Novel Frameshift Mutation, Deletion of HBB:c.199_202delAAAG [Codon 66/67 (-AAAG)] in β-Thalassemia Major Patients from the Western Region of Uttar Pradesh, India.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 77, doi. 10.2147/TACG.S294891

By:

Chauhan, Waseem;
Afzal, Mohammad;
Zaka-ur-Rab, Zeeba;
Noorani, Md Salik

Publication type:

Article

Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 51, doi. 10.2147/TACG.S267421

By:

Rabinowitz, Matthew J;
Huffman, Phillip J;
Haney, Nora M;
Kohn, Taylor P

Publication type:

Article

The Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 37, doi. 10.2147/TACG.S276596

By:

Asri, Nastaran;
Rostami-Nejad, Mohammad;
Anderson, Robert P;
Rostami, Kamran

Publication type:

Article

Genetic Factors Underlying Sudden Infant Death Syndrome.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 61, doi. 10.2147/TACG.S239478

By:

Keywan, Christine;
Poduri, Annapurna H;
Goldstein, Richard D;
Holm, Ingrid A

Publication type:

Article

A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 27, doi. 10.2147/TACG.S278652

By:

Pham, Tran Thu Ha;
Tran, Quang Binh;
Sukasem, Chonlaphat;
Nguyen, Van Dinh;
Chu, Chi Hieu;
Do, Thi Quynh Nga;
Tran, Ngoc Phuong Mai;
Phung, Thanh Huong

Publication type:

Article

Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 11, doi. 10.2147/TACG.S239603

By:

Keinath, Melissa C;
Prior, Devin E;
Prior, Thomas W

Publication type:

Article

Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 1, doi. 10.2147/TACG.S245021

By:

McAlarnen, Lindsey;
Stearns, Kristen;
Uyar, Denise

Publication type:

Article