The Application of Clinical Genetics, Volume 15, Issue (2022)

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The Application of Clinical Genetics, Volume 15, Issue (2022)

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Case Report

Case Report
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
Viktoriia Zabnenkova, Olga Shchagina, Olga Makienko, Galina Matyushchenko & Oxana Ryzhkova
Pages: 1-10
Published online: 06 Jan 2022
AbstractforNovel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome | Full Text | References | PDF (2.2 MB) | EPUB
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Original Research

Article
HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus
Soetjipto, Nur Rochmah, Muhammad Faizi, Yuni Hisbiyah & Anang Endaryanto
Pages: 11-17
Published online: 17 Nov 2022
AbstractforHLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus | Full Text | References | PDF (703.9 KB) | EPUB
  • 222 Views
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Open Access
Article
CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus
Nur Rochmah, Muhammad Faizi, Suhasta Nova, Retno Asih Setyoningrum, Sukmawati Basuki & Anang Endaryanto
Pages: 19-25
Published online: 29 Apr 2022
AbstractforCTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus | Full Text | References | PDF (1.2 MB) | EPUB
  • 180 Views
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Open Access

Case Series

Case Report
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation
Magdalena Pasińska, Ewelina Łazarczyk, Anna Repczyńska, Agnieszka Sobczyńska-Tomaszewska, Janusz Zimowski, Agata Runge & Olga Haus
Pages: 27-38
Published online: 17 Nov 2022
AbstractforClinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation | Full Text | References | PDF (1.4 MB) | EPUB
  • 201 Views
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Open Access

Original Research

Article
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example
Yuqi Yang, Yu Wang, Lingna Zhou, Wei Long, Bin Yu & Huaiyan Wang
Pages: 39-48
Published online: 17 Nov 2022
AbstractforMolecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example | Full Text | References | PDF (1 MB) | EPUB
  • 238 Views
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Open Access
Article
Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?
Werasak Sasanakul, Ampaiwan Chuansumrit, Nongnuch Sirachainan & Praguywan Kadegasem
Pages: 49-54
Published online: 17 Nov 2022
AbstractforProminent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening? | Full Text | References | PDF (319.3 KB) | EPUB
  • 96 Views
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Open Access
Article
Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women
Nhat Nguyen Ngoc, My Tran Ngoc Thao, Sang Trieu Tien, Son Vu Tung, Hoang Le, Hung Ho Sy, Tung Nguyen Thanh & Son Trinh The
Pages: 55-62
Published online: 17 Nov 2022
AbstractforEvaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women | Full Text | References | PDF (365.7 KB) | EPUB
  • 327 Views
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Open Access

Case Report

Case Report
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity
Sebastian Giraldo-Ocampo, Rafael Adrian Pacheco-Orozco & Harry Pachajoa
Pages: 63-68
Published online: 17 Nov 2022
AbstractforA Novel POGZ Variant in a Patient with Intellectual Disability and Obesity | Full Text | References | PDF (536.6 KB) | EPUB
  • 167 Views
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Open Access

Original Research

Article
Deregulation of CircANXA2, Circ0075001, and CircFBXW7 Gene Expressions and Their Predictive Value in Egyptian Acute Myeloid Leukemia Patients
Safaa I Tayel, Shimaa E Soliman, Iman A Ahmedy, Mohamed Abdelhafez, Aly M Elkholy, Amira Hegazy & Nashwa M Muharram
Pages: 69-85
Published online: 17 Nov 2022
AbstractforDeregulation of CircANXA2, Circ0075001, and CircFBXW7 Gene Expressions and Their Predictive Value in Egyptian Acute Myeloid Leukemia Patients | Full Text | References | PDF (3 MB) | EPUB
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Open Access

REVIEW

Review
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
Alyssa M Volmrich, Lauren M Cuénant, Irman Forghani, Sharon L Hsieh & Lauren T Shapiro
Pages: 111-123
Published online: 12 Aug 2022
AbstractforABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy | Full Text | References | PDF (560.9 KB) | EPUB
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CASE REPORT

Case Report
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes
Martin H Maurer, Anja Kohler, Melanie Hudemann, Jerome Jüngling, Saskia Biskup & Martin Menzel
Pages: 125-131
Published online: 02 Sep 2022
AbstractforCase Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes | Full Text | References | PDF (749.4 KB) | EPUB
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Open Access

ORIGINAL RESEARCH

Article
RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations
Natana Chaves Rabelo, Maria Eduarda Gomes, Isabelle de Oliveira Moraes, Juliana Cantagalli Pfisterer, Guilherme Loss de Morais, Deborah Antunes, Ernesto Raúl Caffarena, Juan Llerena Jr & Sayonara Gonzalez
Pages: 153-170
Published online: 29 Nov 2022
AbstractforRASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations | Full Text | References | PDF (7.4 MB) | EPUB
  • 168 Views
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Open Access
Article
Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer
Naglaa S Elabd, Shimaa E Soliman, Moamena S Elhamouly, Suzy F Gohar, Ayman Elgamal, Mahmoud Magdy Alabassy, Haitham A Soliman, Abdelnaser A Gadallah, Osama D Elbahr, Ghada Soliman & Amany A Saleh
Pages: 97-109
Published online: 29 Nov 2022
AbstractforLong Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer | Full Text | References | PDF (3.4 MB) | EPUB
  • 154 Views
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Open Access
Article
Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study
Christy L Pylypjuk, Shiza F Memon & Bernard N Chodirker
Pages: 87-95
Published online: 29 Nov 2022
AbstractforUtility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study | Full Text | References | PDF (1.8 MB) | EPUB
  • 185 Views
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Open Access
Article
Prenatal Sonographic Features of Rare Chromosome 13 Aberrations
Hanna Moczulska, Michal Pietrusinski, Marcin Serafin, Beata Skoczylas, Piotr Sieroszewski & Maciej Borowiec
Pages: 145-151
Published online: 29 Nov 2022
AbstractforPrenatal Sonographic Features of Rare Chromosome 13 Aberrations | Full Text | References | PDF (553.4 KB) | EPUB
  • 116 Views
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Open Access
Article
Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia
Ampaiwan Chuansumrit, Werasak Sasanakul, Nongnuch Sirachainan, Suttikarn Santiwatana, Praguywan Kadegasem, Pakawan Wongwerawattanakoon, Noppawan Tungbubpha & Juthamard Chantaraamporn
Pages: 133-143
Published online: 22 Dec 2022
AbstractforThree-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia | Full Text | References | PDF (336.7 KB) | EPUB
  • 106 Views
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