The Application of Clinical Genetics, Volume 11, Issue (2018)

Browse this journal
Sample our Medicine, Dentistry, Nursing & Allied Health journals, sign in here to start your FREE access for 14 days

The Application of Clinical Genetics, Volume 11, Issue (2018)

See all volumes and issues
Vol 17, 2024 Vol 16, 2023 Vol 15, 2022 Vol 14, 2021 Vol 13, 2020 Vol 12, 2019 Volume 11, 2018 Vol 10, 2017 Vol 9, 2016 Vol 8, 2015 Vol 7, 2014 Vol 6, 2013 Vol 5, 2012 Vol 4, 2011 Vol 3, 2010 Vol 2, 2009 Vol 1, 2008
Download citations Download PDFs Download issue

Original Research

Article
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
Lisha Yang, Iqra Ijaz, Jingliang Cheng, Chunli Wei, Xiaojun Tan, Md Asaduzzaman Khan, Xiaodong Fu & Junjiang Fu
Pages: 1-8
Published online: 28 Dec 2022
AbstractforEvaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia | Full Text | References | PDF (1.6 MB)
  • 98 Views
  • 8 CrossRef citations
  • 0Altmetric
Open Access

Case Report

Case Report
Tetrasomy 18p: case report and review of literature
Shahad Bawazeer, Maha Alshalan, Aziza Alkhaldi, Nasser AlAtwi, Mohammed AlBalwi, Abdulrahman Alswaid & Majid Alfadhel
Pages: 9-14
Published online: 28 Dec 2022
AbstractforTetrasomy 18p: case report and review of literature | Full Text | References | PDF (1.3 MB)
  • 124 Views
  • 12 CrossRef citations
  • 0Altmetric
Open Access
Case Report
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
Harry Pachajoa, William López-Quintero, Sara Vanegas, Claudia L Montoya & Diana Ramírez-Montaño
Pages: 15-21
Published online: 23 Mar 2018
AbstractforNovel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype | Full Text | References | PDF (1.2 MB)
  • 90 Views
  • 5 CrossRef citations
  • 0Altmetric
Open Access

Original Research

Article
Clinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children
Chanchai Traivaree, Boonchai Boonyawat, Chalinee Monsereenusorn, Piya Rujkijyanont & Apichat Photia
Pages: 23-30
Published online: 03 Apr 2018
AbstractforClinical and molecular genetic features of Hb H and AE Bart’s diseases in central Thai children | Full Text | References | PDF (191 KB)
  • 80 Views
  • 9 CrossRef citations
  • 0Altmetric
Open Access

Review

Review Article
Fetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review
Hadeel Alrukban & David Chitayat
Pages: 31-44
Published online: 20 Apr 2018
AbstractforFetal chondrodysplasia punctata associated with maternal autoimmune diseases: a review | Full Text | References | PDF (177 KB)
  • 136 Views
  • 8 CrossRef citations
  • 0Altmetric
Open Access

Original Research

Article
Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA
Sandra M Tapiero-Rodriguez, Johanna C Acosta Guio, Gloria Liliana Porras-Hurtado, Natalia García, Martha Solano, Harry Pachajoa & Harvy M Velasco
Pages: 45-57
Published online: 28 Dec 2022
AbstractforDetermination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA | Full Text | References | PDF (4 MB)
  • 97 Views
  • 12 CrossRef citations
  • 0Altmetric
Open Access
Article
Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients
Nidhi D Shah, Parth S Shah, Yash Y Panchal, Kalpesh H Katudia, Nikunj B Khatri, Hari Shankar P Ray, Upti R Bhatiya, Sandip C Shah, Bhavini S Shah & Mandava V Rao
Pages: 59-67
Published online: 28 Dec 2022
AbstractforMutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients | Full Text | References | PDF (791 KB)
  • 229 Views
  • 6 CrossRef citations
  • 0Altmetric
Open Access

Case Report

Case Report
Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis
Sara Vanegas, Luz Fernanda Sua, Jaime López-Tenorio, Diana Ramírez-Montaño & Harry Pachajoa
Pages: 69-73
Published online: 25 May 2018
AbstractforAchondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis | Full Text | References | PDF (2.9 MB)
  • 158 Views
  • 8 CrossRef citations
  • 0Altmetric
Open Access

Corrigendum

Correction
Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]
Page: 75
Published online: 31 May 2018
CitationforNovel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum] | Full Text | PDF (112.5 KB)
  • 50 Views
  • 0 CrossRef citations
  • 0Altmetric
Open Access

Case Report

Case Report
Prenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1
Isabel Ochando, Melanie Cristine Alonzo Martínez, Ana María Serrano, Antonio Urbano, Eduardo Cazorla, Dolores Calvo & Joaquín Rueda
Pages: 77-80
Published online: 03 Jul 2018
AbstractforPrenatal diagnosis and molecular cytogenetic characterization of a de novo duplication of 15q24.3-q26.1 | Full Text | References | PDF (1.9 MB)
  • 72 Views
  • 3 CrossRef citations
  • 0Altmetric
Open Access

Original Research

Article
Independent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia
Mohammed M El Shafae, Jehan H Sabry, Eman G Behiry, Hanan H Sabry, Mona A Salim & Alaaeldin G Fayez
Pages: 81-87
Published online: 19 Jul 2018
AbstractforIndependent of DAZL-T54A variant and AZF microdeletion in a sample of Egyptian patients with idiopathic non-obstructed azoospermia | Full Text | References | PDF (1.6 MB)
  • 79 Views
  • 3 CrossRef citations
  • 0Altmetric
Open Access

Case Report

Case Report
Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
Marina Guinda Ribeiro, Gabriella Lucato Zunta, Jéssica Silva Santos, Aparecida Machado Moraes, Carmen Silvia Passos Lima & Manoela Marques Ortega
Pages: 89-92
Published online: 10 Aug 2018
AbstractforClinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age | Full Text | References | PDF (1.7 MB)
  • 117 Views
  • 15 CrossRef citations
  • 0Altmetric
Open Access

Original Research

Article
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
Thaise NR Carneiro, Ana CV Krepischi, Silvia S Costa, Israel Tojal da Silva, Angela M Vianna-Morgante, Renan Valieris, Suzana AM Ezquina, Debora R Bertola, Paulo A Otto & Carla Rosenberg
Pages: 93-98
Published online: 22 Aug 2018
AbstractforUtility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases | Full Text | References | PDF (939.8 KB)
  • 123 Views
  • 22 CrossRef citations
  • 0Altmetric
Open Access
Article
IRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance
Anas A Yousef, Eman G Behiry, Wafaa M Abd Allah, Ahmed M Hussien, Abdelmoneam A Abdelmoneam, Mahmoud H Imam & Doaa M Hikal
Pages: 99-106
Published online: 28 Dec 2022
AbstractforIRS-1 genetic polymorphism (r.2963G>A) in type 2 diabetes mellitus patients associated with insulin resistance | Full Text | References | PDF (509.4 KB)
  • 251 Views
  • 15 CrossRef citations
  • 0Altmetric
Open Access

Case Report

Case Report
Aortic calcification in Gaucher disease: a case report
Saud Alsahli, Dalal K Bubshait, Zuhair A Rahbeeni & Majid Alfadhel
Pages: 107-110
Published online: 17 Oct 2018
AbstractforAortic calcification in Gaucher disease: a case report | Full Text | References | PDF (351.6 KB)
  • 81 Views
  • 6 CrossRef citations
  • 0Altmetric
Open Access

Review

Review Article
Pena–Shokeir syndrome: current management strategies and palliative care
Sumaiya Adam, Melantha Coetzee & Engela Magdalena Honey
Pages: 111-120
Published online: 25 Oct 2018
AbstractforPena–Shokeir syndrome: current management strategies and palliative care | Full Text | References | PDF (211 KB)
  • 160 Views
  • 11 CrossRef citations
  • 0Altmetric
Open Access

Original Research

Article
Association of mitochondrial DNA copy number with self-rated health status
Paul Y Takahashi, Gregory D Jenkins, Benjamin P Welkie, Shannon K McDonnell, Jared M evans, James R Cerhan, Janet E Olson, Stephen N Thibodeau, Mine S Cicek & Euijung Ryu
Pages: 121-127
Published online: 25 Oct 2018
AbstractforAssociation of mitochondrial DNA copy number with self-rated health status | Full Text | References | PDF (929.5 KB)
  • 98 Views
  • 7 CrossRef citations
  • 0Altmetric
Open Access

Short Report

Brief Report
Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis
Abdulaziz Alsemari, Mohanned Alsuhaibani, Rawabi Alhathlool & Bayan Mamdouh Ali
Pages: 129-134
Published online: 08 Nov 2018
AbstractforPotential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis | Full Text | References | PDF (1.6 MB)
  • 91 Views
  • 2 CrossRef citations
  • 0Altmetric
Open Access

Review

Review Article
The genetics of congenital central hypoventilation syndrome: clinical implications
John Bishara, Thomas G Keens & Iris A Perez
Pages: 135-144
Published online: 15 Nov 2018
AbstractforThe genetics of congenital central hypoventilation syndrome: clinical implications | Full Text | References | PDF (175.7 KB)
  • 211 Views
  • 29 CrossRef citations
  • 0Altmetric
Open Access

Original Research

Article
The role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population
Ahmed Abu-Siniyeh, Omar F Khabour & Arwa I Owais
Pages: 145-149
Published online: 28 Dec 2022
AbstractforThe role of PAX9 promoter gene polymorphisms in causing hypodontia: a study in the Jordanian population | Full Text | References | PDF (543.2 KB)
  • 91 Views
  • 2 CrossRef citations
  • 0Altmetric
Open Access

Case Report

Case Report
Novel ATP7A gene mutation in a patient with Menkes disease
Gabriela Caicedo-Herrera, Estephania Candelo, Juan Pinilla, Andrés Vidal, Santiago Cruz & Harry Mauricio Pachajoa
Pages: 151-155
Published online: 28 Dec 2022
AbstractforNovel ATP7A gene mutation in a patient with Menkes disease | Full Text | References | PDF (2.6 MB)
  • 101 Views
  • 10 CrossRef citations
  • 0Altmetric
Open Access
Case Report
A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome
Lady J Ríos-Serna, Lorena Díaz-Ordoñez, Estephania Candelo & Harry Pachajoa
Pages: 157-162
Published online: 28 Dec 2022
AbstractforA novel de novo TBX5 mutation in a patient with Holt-Oram syndrome | Full Text | References | PDF (3.1 MB)
  • 73 Views
  • 4 CrossRef citations
  • 0Altmetric
Open Access

Review

Review Article
Adult-onset type II citrullinemia: Current insights and therapy
Kiyoshi Hayasaka & Chikahiko Numakura
Pages: 163-170
Published online: 28 Dec 2022
AbstractforAdult-onset type II citrullinemia: Current insights and therapy | Full Text | References | PDF (1.3 MB)
  • 206 Views
  • 17 CrossRef citations
  • 0Altmetric
Open Access

Explore articles