The Application of Clinical Genetics, Volume 8, Issue (2015)

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The Application of Clinical Genetics, Volume 8, Issue (2015)

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Review

Review Article
Genomic-based tools for the risk assessment, management, and prevention of type 2 diabetes
Katherine A Johansen Taber & Barry D Dickinson
Pages: 1-8
Published online: 24 Dec 2022
AbstractforGenomic-based tools for the risk assessment, management, and prevention of type 2 diabetes | Full Text | References | PDF (221.3 KB)
  • 67 Views
  • 9 CrossRef citations
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Open Access
Review Article
The genetics of Ménière’s disease
Giuseppe Chiarella, C Petrolo & E Cassandro
Pages: 9-17
Published online: 24 Dec 2022
AbstractforThe genetics of Ménière’s disease | Full Text | References | PDF (238.2 KB)
  • 110 Views
  • 32 CrossRef citations
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Open Access
Review Article
Tay-Sachs disease: current perspectives from Australia
Raelia M Lew, Leslie Burnett, Anné L Proos & Martin B Delatycki
Pages: 19-25
Published online: 24 Dec 2022
AbstractforTay-Sachs disease: current perspectives from Australia | Full Text | References | PDF (200.1 KB)
  • 1264 Views
  • 25 CrossRef citations
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Open Access
Review Article
The genetics of familial hypercholesterolemia and emerging therapies
Anja Vogt
Pages: 27-36
Published online: 24 Dec 2022
AbstractforThe genetics of familial hypercholesterolemia and emerging therapies | Full Text | References | PDF (250.7 KB)
  • 125 Views
  • 33 CrossRef citations
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Open Access
Review Article
Progressive osseous heteroplasia: diagnosis, treatment, and prognosis
Robert J Pignolo, Girish Ramaswamy, John T Fong, Eileen M Shore & Frederick S Kaplan
Pages: 37-48
Published online: 24 Dec 2022
AbstractforProgressive osseous heteroplasia: diagnosis, treatment, and prognosis | Full Text | References | PDF (1.7 MB)
  • 173 Views
  • 59 CrossRef citations
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Open Access
Review Article
Moyamoya disease and syndromes: from genetics to clinical management
Stéphanie Guey, Elisabeth Tournier-Lasserve, Dominique Hervé & Manoelle Kossorotoff
Pages: 49-68
Published online: 24 Dec 2022
AbstractforMoyamoya disease and syndromes: from genetics to clinical management | Full Text | References | PDF (1.5 MB)
  • 384 Views
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Open Access

Case Report

Case Report
Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion
Michael J Hall, Julie Innocent, Christina Rybak, Colleen Veloski, Walter J Scott, Hong Wu, John A Ridge, John P Hoffman, Hossein Borghaei, Aruna Turaka & Mary B Daly
Pages: 69-73
Published online: 24 Dec 2022
AbstractforBilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion | Full Text | References | PDF (1.5 MB)
  • 55 Views
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Review

Review Article
Emerging pharmacologic treatment options for fragile X syndrome
Tori L Schaefer, Matthew H Davenport & Craig A Erickson
Pages: 75-93
Published online: 24 Dec 2022
AbstractforEmerging pharmacologic treatment options for fragile X syndrome | Full Text | References | PDF (365.7 KB)
  • 168 Views
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Open Access
Review Article
The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management
Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña & Francesc Balaguer
Pages: 95-107
Published online: 24 Dec 2022
AbstractforThe genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management | Full Text | References | PDF (642.3 KB)
  • 421 Views
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Open Access
Review Article
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis
Christoph Wiesinger, Florian S Eichler & Johannes Berger
Pages: 109-121
Published online: 24 Dec 2022
AbstractforThe genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis | Full Text | References | PDF (663.8 KB)
  • 351 Views
  • 24 CrossRef citations
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Open Access
Review Article
22q11 deletion syndrome: current perspective
Bülent Hacıhamdioğlu, Duygu Hacıhamdioğlu & Kenan Delil
Pages: 123-132
Published online: 24 Dec 2022
Abstractfor22q11 deletion syndrome: current perspective | Full Text | References | PDF (614.5 KB)
  • 427 Views
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Open Access

Short Report

Brief Report
Hardy–Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases
Salvador Trejo, José J Toscano-Flores, Esmeralda Matute & María de Lourdes Ramírez-Dueñas
Pages: 133-136
Published online: 24 Dec 2022
AbstractforHardy–Weinberg equilibrium analysis of the 48 bp VNTR in the III exon of the DRD4 gene in a sample of parents of ADHD cases | Full Text | References | PDF (368.9 KB)
  • 63 Views
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Review

Review Article
Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome
Yskert von Kodolitsch, Julie De Backer, Helke Schüler, Peter Bannas, Cyrus Behzadi, Alexander M Bernhardt, Mathias Hillebrand, Bettina Fuisting, Sara Sheikhzadeh, Meike Rybczynski, Tilo Kölbel, Klaus Püschel, Stefan Blankenberg & Peter N Robinson
Pages: 137-155
Published online: 24 Dec 2022
AbstractforPerspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome | Full Text | References | PDF (1.1 MB)
  • 392 Views
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Open Access
Review Article
Recent advances in gene therapy for lysosomal storage disorders
David PW Rastall & Andrea Amalfitano
Pages: 157-169
Published online: 24 Dec 2022
AbstractforRecent advances in gene therapy for lysosomal storage disorders | Full Text | References | PDF (1.4 MB)
  • 161 Views
  • 11 CrossRef citations
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Open Access
Review Article
Alström syndrome: current perspectives
María Álvarez-Satta, Sheila Castro-Sánchez & Diana Valverde
Pages: 171-179
Published online: 24 Dec 2022
AbstractforAlström syndrome: current perspectives | Full Text | References | PDF (696.5 KB)
  • 148 Views
  • 10 CrossRef citations
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Open Access
Review Article
Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis
Lijiang Ma & Ruijun Bao
Pages: 181-188
Published online: 24 Dec 2022
AbstractforPulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis | Full Text | References | PDF (253.8 KB)
  • 84 Views
  • 10 CrossRef citations
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Open Access
Review Article
1p36 deletion syndrome: an update
Valerie K Jordan, Hitisha P Zaveri & Daryl A Scott
Pages: 189-200
Published online: 27 Aug 2015
Abstractfor1p36 deletion syndrome: an update | Full Text | References | PDF (1.5 MB)
  • 491 Views
  • 30 CrossRef citations
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Open Access
Review Article
An update of clinical management of acute intermittent porphyria
Elena Pischik & Raili Kauppinen
Pages: 201-214
Published online: 24 Dec 2022
AbstractforAn update of clinical management of acute intermittent porphyria | Full Text | References | PDF (425.6 KB)
  • 792 Views
  • 115 CrossRef citations
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Open Access
Review Article
Genetics of inherited primary arrhythmia disorders
Danna A Spears & Michael H Gollob
Pages: 215-233
Published online: 18 Sep 2015
AbstractforGenetics of inherited primary arrhythmia disorders | Full Text | References | PDF (2.1 MB)
  • 142 Views
  • 5 CrossRef citations
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Open Access
Review Article
The genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management
J Chad Hoyle, Michael C Isfort, Jennifer Roggenbuck & W David Arnold
Pages: 235-243
Published online: 24 Dec 2022
AbstractforThe genetics of Charcot–Marie–Tooth disease: current trends and future implications for diagnosis and management | Full Text | References | PDF (255 KB)
  • 305 Views
  • 7 CrossRef citations
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Open Access
Review Article
Diagnostic and treatment strategies in mucopolysaccharidosis VI
Filippo Vairo, Andressa Federhen, Guilherme Baldo, Mariluce Riegel, Maira Burin, Sandra Leistner-Segal & Roberto Giugliani
Pages: 245-255
Published online: 30 Oct 2015
AbstractforDiagnostic and treatment strategies in mucopolysaccharidosis VI | Full Text | References | PDF (1.5 MB)
  • 118 Views
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Open Access

Original Research

Article
ROCK2 and MYLK variants under hypobaric hypoxic environment of high altitude associate with high altitude pulmonary edema and adaptation
Priyanka Pandey, Ghulam Mohammad, Yogendra Singh & MA Qadar Pasha
Pages: 257-267
Published online: 02 Nov 2015
AbstractforROCK2 and MYLK variants under hypobaric hypoxic environment of high altitude associate with high altitude pulmonary edema and adaptation | Full Text | References | PDF (1.7 MB)
  • 82 Views
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Review

Review Article
Sanfilippo syndrome: causes, consequences, and treatments
Anthony O Fedele
Pages: 269-281
Published online: 24 Dec 2022
AbstractforSanfilippo syndrome: causes, consequences, and treatments | Full Text | References | PDF (589.4 KB)
  • 1543 Views
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Open Access
Review Article
Insights into genetic susceptibility in the etiology of spontaneous preterm birth
Sasha E Parets, Anna K Knight & Alicia K Smith
Pages: 283-290
Published online: 14 Dec 2015
AbstractforInsights into genetic susceptibility in the etiology of spontaneous preterm birth | Full Text | References | PDF (236.4 KB)
  • 79 Views
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