The Application of Clinical Genetics, Volume 13, Issue (2020)

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The Application of Clinical Genetics, Volume 13, Issue (2020)

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Review

Review Article
The Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article
Behnam Kamalidehghan, Mohsen Habibi, Sara S Afjeh, Maryam Shoai, Saeideh Alidoost, Rouzbeh Almasi Ghale, Nahal Eshghifar & Farkhondeh Pouresmaeili
Pages: 1-11
Published online: 17 Nov 2022
AbstractforThe Importance of Small Non-Coding RNAs in Human Reproduction: A Review Article | Full Text | References | PDF (2.7 MB) | EPUB
  • 482 Views
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Review Article
Sjogren-Larsson Syndrome: Mechanisms and Management
Parayil Sankaran Bindu
Pages: 13-24
Published online: 17 Nov 2022
AbstractforSjogren-Larsson Syndrome: Mechanisms and Management | Full Text | References | PDF (2.5 MB) | EPUB
  • 253 Views
  • 15 CrossRef citations
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Open Access

Original Research

Article
Metabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome
Francisco Álvarez-Nava, Marcia Racines-Orbe, Julia Witt, Jéssica Guarderas, Yosselin Vicuña, María Estévez & Roberto Lanes
Pages: 25-35
Published online: 17 Nov 2022
AbstractforMetabolic Syndrome as a Risk Factor for Sensorineural Hearing Loss in Adult Patients with Turner Syndrome | Full Text | References | PDF (1.4 MB) | EPUB
  • 145 Views
  • 6 CrossRef citations
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Open Access

Review

Review Article
Alkaptonuria: Current Perspectives
Andrea Zatkova, Lakshminarayan Ranganath & Ludevit Kadasi
Pages: 37-47
Published online: 17 Nov 2022
AbstractforAlkaptonuria: Current Perspectives | Full Text | References | PDF (2 MB) | EPUB
  • 1232 Views
  • 24 CrossRef citations
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Open Access

Case report

Case Report
Molybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature
MC Alonzo Martínez, E Cazorla, E Cánovas, K Anniuk, AE Cores & AM Serrano
Pages: 49-55
Published online: 17 Nov 2022
AbstractforMolybdenum Cofactor Deficiency: Mega Cisterna Magna in Two Consecutive Pregnancies and Review of the Literature | Full Text | References | PDF (1.8 MB) | EPUB
  • 214 Views
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Open Access
Case Report
PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country
Jessica María Forero-Delgadillo, Daniela Cleves, Vanessa Ochoa, Hernando Londoño-Correa, Jaime Manuel Restrepo, José Antonio Nastasi-Catanese & Harry Pachajoa
Pages: 57-62
Published online: 17 Nov 2022
AbstractforPHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country | Full Text | References | PDF (789.7 KB) | EPUB
  • 153 Views
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Open Access
Case Report
A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis
Gabriel D Pinilla-Monsalve, Juliana Lores, Harry Pachajoa, Juan D López-Ponce de León, Alejandro López, Lisa X Rodríguez-Rojas & José A Nastasi-Catanese
Pages: 63-69
Published online: 26 Mar 2020
AbstractforA Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis | Full Text | References | PDF (2.6 MB) | EPUB
  • 117 Views
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Review

Review Article
Alternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations
Alessandro Capuano, Giacomo Garone, Giuseppe Tiralongo & Federica Graziola
Pages: 71-81
Published online: 30 Mar 2020
AbstractforAlternating Hemiplegia of Childhood: Understanding the Genotype–Phenotype Relationship of ATP1A3 Variations | Full Text | References | PDF (1.2 MB) | EPUB
  • 265 Views
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Open Access
Review Article
Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide
Rafael Loch Batista & Berenice Bilharinho Mendonca
Pages: 83-96
Published online: 17 Nov 2022
AbstractforIntegrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide | Full Text | References | PDF (2.5 MB) | EPUB
  • 435 Views
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Open Access

Original Research

Article
Association of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia
Ivan V Pozhidaev, Anastasiia S Boiko, Anton J M Loonen, Diana Z Paderina, Olga Yu Fedorenko, Gennadiy Tenin, Elena G Kornetova, Arkadiy V Semke, Nikolay A Bokhan, Bob Wilffert & Svetlana A Ivanova
Pages: 97-105
Published online: 17 Nov 2022
AbstractforAssociation of Cholinergic Muscarinic M4 Receptor Gene Polymorphism with Schizophrenia | Full Text | References | PDF (1.4 MB) | EPUB
  • 150 Views
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Open Access
Article
Haptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study
Oladele Simeon Olatunya, Dulcineia Martins Albuquerque, Magnun Nueldo Nunes Santos, Tolorunju Segun Kayode, Adekunle Adekile & Fernando Ferreira Costa
Pages: 107-114
Published online: 08 May 2020
AbstractforHaptoglobin Gene Polymorphism in Patients with Sickle Cell Anemia: Findings from a Nigerian Cohort Study | Full Text | References | PDF (1.7 MB) | EPUB
  • 191 Views
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Open Access
Article
The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case–Control Study
Sohaib M Al-Khatib, Nour Abdo, Laith N Al-Eitan, Abdel-Hameed W Al-Mistarehi, Deeb Jamil Zahran, Marwan Al Ajlouni & Tariq Zuheir Kewan
Pages: 115-126
Published online: 11 Jun 2020
AbstractforThe Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case–Control Study | Full Text | References | PDF (591.8 KB) | EPUB
  • 140 Views
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Open Access
Article
Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors
Erin L Crowgey, Tea Soini, Nidhi Shah, Satu-Liisa Pauniaho, Pekka Lahdenne, David B Wilson, Markku Heikinheimo & Todd E Druley
Pages: 127-137
Published online: 17 Nov 2022
AbstractforGermline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors | Full Text | References | PDF (3.1 MB) | EPUB
  • 124 Views
  • 1 CrossRef citations
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Open Access
Article
The Influence of IL-1B Gene Polymorphisms on H. pylori Infection and Triple Treatment Response Among Jordanian Population
Muhamad Ali K Shakhatreh, Omar F Khabour, Karem H Alzoubi, Mohammed N BaniHani, Ahmed Abu-Siniyeh, Nabil A Bashir, Salsabeel H Sabi & Mahmoud Mahafdah
Pages: 139-145
Published online: 17 Nov 2022
AbstractforThe Influence of IL-1B Gene Polymorphisms on H. pylori Infection and Triple Treatment Response Among Jordanian Population | Full Text | References | PDF (531.6 KB) | EPUB
  • 136 Views
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Open Access

Case Report

Case Report
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report
Laura Torres-Canchala, Daniela Castaño, Nathalia Silva, Ana María Gómez, Alejandro Victoria & Harry Pachajoa
Pages: 147-150
Published online: 17 Nov 2022
AbstractforPrenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report | Full Text | References | PDF (4.8 MB) | EPUB
  • 113 Views
  • 7 CrossRef citations
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Open Access
Case Report
A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature
Amir Hossein Karimi, Mohammad Reza Karimi, Poopak Farnia, Farshid Parvini & Majid Foroutan
Pages: 151-157
Published online: 27 Aug 2020
AbstractforA Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature | Full Text | References | PDF (1.4 MB) | EPUB
  • 197 Views
  • 4 CrossRef citations
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Open Access
Case Report
Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization
Harry Pachajoa, Angelica Claros-Hulbert, Ximena García-Quintero, Lina Perafan, Andres Ramirez & Andres F Zea-Vera
Pages: 159-164
Published online: 17 Nov 2022
AbstractforHutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization | Full Text | References | PDF (680.1 KB) | EPUB
  • 211 Views
  • 3 CrossRef citations
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Open Access

Original Research

Article
The Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients
Mona S Habieb, Ashraf A Dawood, Mahmoud M Emara, Mohammad G Elhelbawy & Nesreen G Elhelbawy
Pages: 165-178
Published online: 17 Nov 2022
AbstractforThe Human Genetic Variants CYP2J2 rs2280275 and EPHX2 rs751141 and Risk of Diabetic Nephropathy in Egyptian Type 2 Diabetic Patients | Full Text | References | PDF (387 KB) | EPUB
  • 106 Views
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Open Access

Review

Review Article
Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
Srikanta Kumar Padhy, Brijesh Takkar, Raja Narayanan, Pradeep Venkatesh & Subhadra Jalali
Pages: 179-208
Published online: 17 Nov 2022
AbstractforVoretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date | Full Text | References | PDF (2.4 MB) | EPUB
  • 280 Views
  • 9 CrossRef citations
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Open Access

Original Research

Article
Incidence of HNF1A and GCK MODY Variants in a South African Population
Tandi E Matsha, Shanel Raghubeer, Abegail M Tshivhase, Saarah F G Davids, Gloudina M Hon, Lise Bjørkhaug & Rajiv T Erasmus
Pages: 209-219
Published online: 17 Nov 2022
AbstractforIncidence of HNF1A and GCK MODY Variants in a South African Population | Full Text | References | PDF (415.2 KB) | EPUB
  • 203 Views
  • 3 CrossRef citations
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Article
Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases
Eyad Altamimi, Mariam Khanfar, Omar Rabab’h, Zain Dardas, Luma Srour, Lina Mustafa & Bilal Azab
Pages: 221-231
Published online: 17 Nov 2022
AbstractforEffect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases | Full Text | References | PDF (2.7 MB) | EPUB
  • 112 Views
  • 0 CrossRef citations
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Case Report

Case Report
A Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies
Camilo Andres Velandia-Piedrahita, Adrien Morel, Dora Janeth Fonseca-Mendoza, Victor Manuel Huertas-Quiñones, David Castillo, Juan Diego Bonilla, Camilo José Hernandez-Toro, Marta Catalina Miranda-Fernández, Carlos Martin Restrepo & Rodrigo Cabrera
Pages: 233-240
Published online: 17 Nov 2022
AbstractforA Novel Splice-Site Mutation in the ELN Gene Suggests an Alternative Mechanism for Vascular Elastinopathies | Full Text | References | PDF (4.7 MB) | EPUB
  • 153 Views
  • 1 CrossRef citations
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Open Access

Original Research

Article
Role of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction
Amany A Saleh, Safaa I Tayel, Awny Gamal Shalaby & Sherin Sobhy El naidany
Pages: 241-252
Published online: 17 Nov 2022
AbstractforRole of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction | Full Text | References | PDF (2.6 MB) | EPUB
  • 107 Views
  • 5 CrossRef citations
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