The Application of Clinical Genetics, Volume 16, Issue (2023)

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The Application of Clinical Genetics, Volume 16, Issue (2023)

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PERSPECTIVES

Donor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office’s Report
Rafał Patryn, Anna Zagaja & Mariola Drozd
Pages: 1-10
Published online: 20 Jan 2023
AbstractforDonor Safety, Discrepancies Between Practice and Theory: Analysis of the Polish Supreme Audit Office’s Report | Full Text | References | PDF (446.1 KB) | EPUB
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REVIEW

Review
Genetic Links to Episodic Movement Disorders: Current Insights
Divyani Garg, Shekeeb Mohammad, Anju Shukla & Suvasini Sharma
Pages: 11-30
Published online: 01 Mar 2023
AbstractforGenetic Links to Episodic Movement Disorders: Current Insights | Full Text | References | PDF (1.5 MB) | EPUB
  • 511 Views
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Review
Genetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives
Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jørgensen, Anders Albrechtsen, Torben Hansen & Mette K Andersen
Pages: 31-39
Published online: 23 Mar 2023
AbstractforGenetic Loss of Sucrase-Isomaltase Function: Mechanisms, Implications, and Future Perspectives | Full Text | References | PDF (2.8 MB) | EPUB
  • 485 Views
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Review
Prader-Willi and Angelman Syndromes: Mechanisms and Management
Van K Ma, Rong Mao, Jessica N Toth, Makenzie L Fulmer, Alena S Egense & Suma P Shankar
Pages: 41-52
Published online: 06 Apr 2023
AbstractforPrader-Willi and Angelman Syndromes: Mechanisms and Management | Full Text | References | PDF (2 MB) | EPUB
  • 1120 Views
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ORIGINAL RESEARCH

Article
The Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, Jose Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez & Angela R Zambrano
Pages: 53-62
Published online: 18 Apr 2023
AbstractforThe Unique Spectrum of MUTYH Germline Mutations in Colombian Patients with Extracolonic Carcinomas | Full Text | References | PDF (3.4 MB) | EPUB
  • 421 Views
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REVIEW

Review
Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache
Luis Fernando Sánchez-Espino, Marta Ivars, Javier Antoñanzas & Eulalia Baselga
Pages: 63-81
Published online: 24 Apr 2023
AbstractforSturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache | Full Text | References | PDF (2.1 MB) | EPUB
  • 874 Views
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Open Access

CASE REPORT

Case Report
A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report
Amina Scherz, Susanna Stoll, Benno Rothlisberger & Manuela Rabaglio
Pages: 83-87
Published online: 11 May 2023
AbstractforA New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report | Full Text | References | PDF (1 MB) | EPUB
  • 289 Views
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PERSPECTIVES

Article Commentary
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
Karin EM Diderich, Jasmijn E Klapwijk, Vyne van der Schoot, Hennie T Brüggenwirth, Marieke Joosten & Malgorzata I Srebniak
Pages: 89-97
Published online: 15 May 2023
AbstractforChallenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing | Full Text | References | PDF (428.9 KB) | EPUB
  • 308 Views
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Open Access

ORIGINAL RESEARCH

Article
Profile of BRAFV600E, BRAFK601E, NRAS, HRAS, and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital
Agnes Stephanie Harahap, Imam Subekti, Sonar Soni Panigoro, Asmarinah, Lisnawati, Retno Asti Werdhani, Hasrayati Agustina, Dina Khoirunnisa, Mutiah Mutmainnah, Salinah, Alvita Dewi Siswoyo & Maria Francisca Ham
Pages: 99-110
Published online: 25 May 2023
AbstractforProfile of BRAFV600E, BRAFK601E, NRAS, HRAS, and KRAS Mutational Status, and Clinicopathological Characteristics of Papillary Thyroid Carcinoma in Indonesian National Referral Hospital | Full Text | References | PDF (2.3 MB) | EPUB
  • 355 Views
  • 1 CrossRef citations
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REVIEW

Review
Adeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We?
Divya Ail, Hugo Malki, Emilia A Zin & Deniz Dalkara
Pages: 111-130
Published online: 30 May 2023
AbstractforAdeno-Associated Virus (AAV) - Based Gene Therapies for Retinal Diseases: Where are We? | Full Text | References | PDF (795 KB) | EPUB
  • 644 Views
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ORIGINAL RESEARCH

Article
Evaluating the Frequencies of CNOT3, GRIA1, NFATC2, and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia
Awol Mekonnen Ali, Haileyesus Adam, Daniel Hailu, Rawleigh Howe, Teferra Abula & Marieke JH Coenen
Pages: 131-137
Published online: 02 Aug 2023
AbstractforEvaluating the Frequencies of CNOT3, GRIA1, NFATC2, and PNPLA3 Variant Alleles and Their Association with L-Asparaginase Hypersensitivity in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia | Full Text | References | PDF (751.5 KB) | EPUB
  • 185 Views
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REVIEW

Review
Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis
Filippos Kyriakidis, Dionysios Kogias, Theodora Maria Venou, Eleni Karlafti & Daniel Paramythiotis
Pages: 139-153
Published online: 14 Aug 2023
AbstractforUpdated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis | Full Text | References | PDF (2.1 MB) | EPUB
  • 519 Views
  • 1 CrossRef citations
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Open Access

ORIGINAL RESEARCH

Article
Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients
Son The Trinh, Nhat Ngoc Nguyen, Hien Thi Thu Le, Hanh Thi My Pham, Sang Tien Trieu, Ngoc Thao My Tran, Hung Sy Ho, Danh Van Tran, Tam Van Trinh, Hiep Trong Hoang Nguyen, Ngoc Pham Minh, Trinh Duc Dang, Viet Huu Dinh & Hang Thi Doan
Pages: 155-164
Published online: 28 Aug 2023
AbstractforScreening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients | Full Text | References | PDF (461.6 KB) | EPUB
  • 235 Views
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CASE REPORT

Case Report
Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
Kulawan Rojananuangnit & Kitiwan Rojnueangnit
Pages: 165-170
Published online: 29 Aug 2023
AbstractforMicrospherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report | Full Text | References | PDF (898.7 KB) | EPUB
  • 174 Views
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ORIGINAL RESEARCH

Article
Copy Number Variation in the GSTM1 and GSTT1 Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia
Abraham Nigussie Mekuria, Tamrayehu Seyoum, Dawit Hailu Alemayehu, Markos Abebe, Teshome Nedi, Tefera Abula, Yun Yun Gong & Ephrem Engidawork
Pages: 171-179
Published online: 20 Oct 2023
AbstractforCopy Number Variation in the GSTM1 and GSTT1 Genes and the Risk of Liver Cirrhosis in Eastern Ethiopia | Full Text | References | PDF (789.6 KB) | EPUB
  • 107 Views
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REVIEW

Review
The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview
Hanna J Tadros, Christina Y Miyake, Debra L Kearney, Jeffrey J Kim & Susan W Denfield
Pages: 181-203
Published online: 01 Nov 2023
AbstractforThe Many Faces of Arrhythmogenic Cardiomyopathy: An Overview | Full Text | References | PDF (5.6 MB) | EPUB
  • 199 Views
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ORIGINAL RESEARCH

Article
Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics
Bastien Grandjean, Amina Scherz & Manuela Rabaglio
Pages: 205-213
Published online: 09 Nov 2023
AbstractforEleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics | Full Text | References | PDF (4.6 MB) | EPUB
  • 105 Views
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Open Access
Article
Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations
Ampaiwan Chuansumrit, Rungrote Natesirinilkul, Nongnuch Sirachainan, Praguywan Kadegasem, Pacharapan Surapolchai, Noppawan Tangbubpha, Ketsuda Kempka & Tanyanee Khlangtan
Pages: 215-223
Published online: 30 Nov 2023
AbstractforMulticenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations | Full Text | References | PDF (394.1 KB) | EPUB
  • 125 Views
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Article
Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population
Retno Hesty Maharani, Hartati Purbo Dharmadji, Reti Hindritiani, Pati Aji Achdiat, Hendra Gunawan & Reiva Farah Dwiyana
Pages: 225-232
Published online: 20 Dec 2023
AbstractforVitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population | Full Text | References | PDF (1.3 MB) | EPUB
  • 125 Views
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Article
A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation
Hubertus von Korn, Cristina Basso, Kalliopi Pilichou, Victor Stefan & Patrick Swojanowsky
Pages: 233-239
Published online: 20 Dec 2023
AbstractforA New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation | Full Text | References | PDF (7.3 MB) | EPUB
  • 101 Views
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