The Application of Clinical Genetics, Volume 14, Issue (2021)

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The Application of Clinical Genetics, Volume 14, Issue (2021)

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Review

Review Article
Challenges of Genomic Testing for Hereditary Breast and Ovarian Cancers
Lindsey McAlarnen, Kristen Stearns & Denise Uyar
Pages: 1-9
Published online: 17 Nov 2022
AbstractforChallenges of Genomic Testing for Hereditary Breast and Ovarian Cancers | Full Text | References | PDF (303.8 KB) | EPUB
  • 283 Views
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Review Article
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance
Melissa C Keinath, Devin E Prior & Thomas W Prior
Pages: 11-25
Published online: 17 Nov 2022
AbstractforSpinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance | Full Text | References | PDF (1.7 MB) | EPUB
  • 1276 Views
  • 31 CrossRef citations
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Original Research

Article
A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People
Tran Thu Ha Pham, Quang Binh Tran, Chonlaphat Sukasem, Van Dinh Nguyen, Chi Hieu Chu, Thi Quynh Nga Do, Ngoc Phuong Mai Tran & Thanh Huong Phung
Pages: 27-35
Published online: 17 Nov 2022
AbstractforA Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People | Full Text | References | PDF (1.9 MB) | EPUB
  • 155 Views
  • 1 CrossRef citations
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Review

Review Article
The Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance
Nastaran Asri, Mohammad Rostami-Nejad, Robert P Anderson & Kamran Rostami
Pages: 37-50
Published online: 17 Nov 2022
AbstractforThe Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance | Full Text | References | PDF (2.6 MB) | EPUB
  • 1333 Views
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Open Access
Review Article
Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations
Matthew J Rabinowitz, Phillip J Huffman, Nora M Haney & Taylor P Kohn
Pages: 51-59
Published online: 17 Nov 2022
AbstractforY-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations | Full Text | References | PDF (604.2 KB) | EPUB
  • 739 Views
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Open Access
Review Article
Genetic Factors Underlying Sudden Infant Death Syndrome
Christine Keywan, Annapurna H Poduri, Richard D Goldstein & Ingrid A Holm
Pages: 61-76
Published online: 17 Nov 2022
AbstractforGenetic Factors Underlying Sudden Infant Death Syndrome | Full Text | References | PDF (425.2 KB) | EPUB
  • 615 Views
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Open Access

Original Research

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
Waseem Chauhan, Mohammad Afzal, Zeeba Zaka-ur-Rab & Md Salik Noorani
Pages: 77-85
Published online: 17 Nov 2022
AbstractforA 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 | Full Text | References | PDF (4.6 MB) | EPUB
  • 202 Views
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Expression of Concern

Expression of Concern
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]
Page: 87
Published online: 17 Nov 2022
CitationforGreig 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] | Full Text | PDF (166.1 KB) | EPUB
  • 71 Views
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Review

Review Article
Updates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma
Altaf A Kondkar
Pages: 89-112
Published online: 17 Nov 2022
AbstractforUpdates on Genes and Genetic Mechanisms Implicated in Primary Angle-Closure Glaucoma | Full Text | References | PDF (1.6 MB) | EPUB
  • 260 Views
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Review Article
Identifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension
Emmanuel Eroume-A Egom, Roger Moyou-Somo, Jean Louis Essame Oyono & Rene Kamgang
Pages: 113-124
Published online: 17 Nov 2022
AbstractforIdentifying Potential Mutations Responsible for Cases of Pulmonary Arterial Hypertension | Full Text | References | PDF (1.8 MB) | EPUB
  • 165 Views
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Original Research

Article
The Effect of Teratozoospermia on Sex Chromosomes in Human Embryos
Dalia Mostafa Nayel, Hanan Salah El Din Mahrous, Emad El Din Khalifa, Soha Kholeif & Ghada Mohamed Elhady
Pages: 125-144
Published online: 17 Nov 2022
AbstractforThe Effect of Teratozoospermia on Sex Chromosomes in Human Embryos | Full Text | References | PDF (2.4 MB) | EPUB
  • 170 Views
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Review

Review Article
Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases
Kirsten B Dorschel & John E Wanebo
Pages: 145-171
Published online: 17 Nov 2022
AbstractforGenetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases | Full Text | References | PDF (6.8 MB) | EPUB
  • 237 Views
  • 9 CrossRef citations
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Open Access
Review Article
Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum
Susana Seixas & Patricia Isabel Marques
Pages: 173-194
Published online: 17 Nov 2022
AbstractforKnown Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum | Full Text | References | PDF (3.5 MB) | EPUB
  • 915 Views
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Review Article
The Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia
Daniel W Sirkis, Luke W Bonham & Jennifer S Yokoyama
Pages: 195-207
Published online: 17 Nov 2022
AbstractforThe Role of Microglia in Inherited White-Matter Disorders and Connections to Frontotemporal Dementia | Full Text | References | PDF (549.1 KB) | EPUB
  • 223 Views
  • 7 CrossRef citations
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Review Article
GM1 Gangliosidosis: Mechanisms and Management
Allisandra K Rha, Anne S Maguire & Douglas R Martin
Pages: 209-233
Published online: 17 Nov 2022
AbstractforGM1 Gangliosidosis: Mechanisms and Management | Full Text | References | PDF (3.1 MB) | EPUB
  • 831 Views
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Case Report

Case Report
Pseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported
Yosra Zaimi, Myriam Ayari, Asma Mensi, Linda Bel Hadj Kacem, Leila Achouri, Meriem Bouzrara, Yosra Said, Leila Mouelhi & Radhouane Debbeche
Pages: 235-239
Published online: 17 Nov 2022
AbstractforPseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported | Full Text | References | PDF (337 KB) | EPUB
  • 98 Views
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Review

Review Article
Genetic Predictors of Mortality in Patients with Multiple Myeloma
Hamza Hassan & Raphael Szalat
Pages: 241-254
Published online: 17 Nov 2022
AbstractforGenetic Predictors of Mortality in Patients with Multiple Myeloma | Full Text | References | PDF (394.9 KB) | EPUB
  • 203 Views
  • 3 CrossRef citations
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Open Access
Review Article
A Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer
Bradley King, Jana McHugh & Katie Snape
Pages: 255-266
Published online: 17 Nov 2022
AbstractforA Case-Based Clinical Approach to the Investigation, Management and Screening of Families with BRCA2 Related Prostate Cancer | Full Text | References | PDF (511 KB) | EPUB
  • 116 Views
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Open Access

Case Series

Case Report
The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report
Estephania Candelo, Maria Alejandra Estrada-Mesa, Adriana Jaramillo, Carlos Humberto Martinez-Cajas, Julio Cesar Osorio & Harry Pachajoa
Pages: 267-277
Published online: 17 Nov 2022
AbstractforThe Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report | Full Text | References | PDF (958.6 KB) | EPUB
  • 211 Views
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Review

Review Article
Mutations Involved in Premature-Ageing Syndromes
Fabio Coppedè
Pages: 279-295
Published online: 17 Nov 2022
AbstractforMutations Involved in Premature-Ageing Syndromes | Full Text | References | PDF (464.6 KB) | EPUB
  • 325 Views
  • 14 CrossRef citations
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Open Access

Original Research

Article
NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia
Achmad Headriawan, Alvinsyah Adhityo Pramono, Abdurachman Sukadi, Alex Chairulfatah, Ani Melani Maskoen & Heda Melinda Nataprawira
Pages: 297-303
Published online: 17 Nov 2022
AbstractforNAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia | Full Text | References | PDF (339.5 KB) | EPUB
  • 134 Views
  • 1 CrossRef citations
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Review

Review Article
Variable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype
César Payán-Gómez, Julian Ramirez-Cheyne & Wilmar Saldarriaga
Pages: 305-312
Published online: 17 Nov 2022
AbstractforVariable Expressivity in Fragile X Syndrome: Towards the Identification of Molecular Characteristics That Modify the Phenotype | Full Text | References | PDF (276.6 KB) | EPUB
  • 131 Views
  • 2 CrossRef citations
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Original Research

Article
Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene
Son Trinh The, Sang Trieu Tien, Tam Vu Van, Nhat Nguyen Ngoc, My Tran Ngoc Thao, Khoa Tran Van, Dinh Vu Nhat & Binh Do Nhu
Pages: 313-319
Published online: 14 Jul 2021
AbstractforSuccessful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the ABCD1 Gene | Full Text | References | PDF (1.5 MB) | EPUB
  • 151 Views
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Review

Review Article
Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature
Ralph S Papas & William H Kutteh
Pages: 321-329
Published online: 17 Nov 2022
AbstractforGenetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature | Full Text | References | PDF (1 MB) | EPUB
  • 359 Views
  • 5 CrossRef citations
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Original Research

Article
Evaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt
Abeer ALrefai, Ashraf Dawood, Wafaa Shehata, Mohammed Elhelbawy & Nesreen Elhelbawy
Pages: 331-339
Published online: 17 Nov 2022
AbstractforEvaluation of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) Functional Polymorphisms in Psoriasis Susceptibility in Egypt | Full Text | References | PDF (378.7 KB) | EPUB
  • 186 Views
  • 1 CrossRef citations
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Open Access
Article
ITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand
Boonchai Boonyawat, Chalinee Monsereenusorn, Apichat Photia, Nawachai Lertvivatpong, Varissara Kaewchaivijit, Punyanuch Jindatanmanusan & Piya Rujkijyanont
Pages: 341-351
Published online: 17 Nov 2022
AbstractforITPA:c.94C>A and NUDT15:c.415C>T Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand | Full Text | References | PDF (1.1 MB) | EPUB
  • 132 Views
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Review

Review Article
Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease
Devan S Kowdley & Kris V Kowdley
Pages: 353-361
Published online: 12 Aug 2021
AbstractforAppropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease | Full Text | References | PDF (542.2 KB) | EPUB
  • 188 Views
  • 1 CrossRef citations
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Review Article
Autoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives
Murugan Sudhakar, Rashmi Rikhi, Sathish Kumar Loganathan, Deepti Suri & Surjit Singh
Pages: 363-388
Published online: 17 Nov 2022
AbstractforAutoimmunity in Wiskott–Aldrich Syndrome: Updated Perspectives | Full Text | References | PDF (1.8 MB) | EPUB
  • 470 Views
  • 11 CrossRef citations
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Open Access

Case Report

Case Report
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
Bożena Kosztyła-Hojna, Jan Borys, Maciej Zdrojkowski, Emilia Duchnowska, Anna Kraszewska, Daria Wasilewska, Christiane Zweier & Alina Teresa Midro
Pages: 389-398
Published online: 06 Sep 2021
AbstractforPhoniatric, 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 | Full Text | References | PDF (4.8 MB) | EPUB
  • 153 Views
  • 2 CrossRef citations
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Original Research

Article
Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy
Paula Triana-Fonseca, Juan Fernando Parada-Márquez, Claudia T Silva-Aldana, Daniela Zambrano-Arenas, Laura Lucia Arias-Gomez, Natalia Morales-Fonseca, Esteban Medina-Méndez, Carlos M Restrepo, Daniel Felipe Silgado-Guzmán & Dora Janeth Fonseca-Mendoza
Pages: 399-408
Published online: 17 Nov 2022
AbstractforGenetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy | Full Text | References | PDF (1.3 MB) | EPUB
  • 150 Views
  • 2 CrossRef citations
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Case Report

Case Report
A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
Erica Aristizábal, Lorena Diaz-Ordóñez, Estephania Candelo & Harry Pachajoa
Pages: 409-416
Published online: 05 Oct 2021
AbstractforA Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report | Full Text | References | PDF (1.8 MB) | EPUB
  • 119 Views
  • 3 CrossRef citations
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Original Research

Article
Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population
Beata Kaleta, Mieszko Lachota, Jacek Łukaszkiewicz, Anna Woźniacka & Jarosław Bogaczewicz
Pages: 417-425
Published online: 17 Nov 2022
AbstractforOsteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population | Full Text | References | PDF (360 KB) | EPUB
  • 92 Views
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Review

Review Article
Genetic Testing in CYLD Cutaneous Syndrome: An Update
Nikoletta Nagy, Anna Dubois, Marta Szell & Neil Rajan
Pages: 427-444
Published online: 17 Nov 2022
AbstractforGenetic Testing in CYLD Cutaneous Syndrome: An Update | Full Text | References | PDF (9.4 MB) | EPUB
  • 170 Views
  • 3 CrossRef citations
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Review Article
The Clinical Genetics of Hemophilia B (Factor IX Deficiency)
Connie H Miller
Pages: 445-454
Published online: 17 Nov 2022
AbstractforThe Clinical Genetics of Hemophilia B (Factor IX Deficiency) | Full Text | References | PDF (1.4 MB) | EPUB
  • 836 Views
  • 5 CrossRef citations
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Review Article
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
Anne Marie Jelsig, Anna Byrjalsen, Majbritt Busk Madsen, Tine Plato Kuhlmann, Thomas van Overeem Hansen, Karin A W Wadt & John Gásdal Karstensen
Pages: 455-466
Published online: 17 Nov 2022
AbstractforNovel Genetic Causes of Gastrointestinal Polyposis Syndromes | Full Text | References | PDF (2.1 MB) | EPUB
  • 157 Views
  • 4 CrossRef citations
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Original Research

Article
Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam
Sang Trieutien, Tam Vu Van, My Tran Ngoc Thao, Son Trinh The, Khoa Tran Van, Tung Nguyen Thanh, Tuan Tran Van & Hanh Nguyen Thi
Pages: 467-472
Published online: 17 Nov 2022
AbstractforPreimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam | Full Text | References | PDF (275.1 KB) | EPUB
  • 130 Views
  • 0 CrossRef citations
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Case Series

Case Report
First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features
Jorge Andres Olave-Rodriguez, Francisco Javier Bonilla-Escobar, Estephania Candelo & Lisa Ximena Rodriguez-Rojas
Pages: 473-479
Published online: 17 Nov 2022
AbstractforFirst Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features | Full Text | References | PDF (2.3 MB) | EPUB
  • 181 Views
  • 1 CrossRef citations
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