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Issues

Volume 1, Issue 1
February 2010
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ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2010, Vol. 1, No. 1

Paper

Editorial
Anita Rauch
Mol Syndromol (2010) 1 (1): 1. https://doi.org/10.1159/000280180
View articletitled, Editorial
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Review Article

Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis
M. Tartaglia; G. Zampino; B.D. Gelb
Mol Syndromol (2010) 1 (1): 2–26. https://doi.org/10.1159/000276766
View articletitled, Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis
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Original Article

A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
B. Pawlik; A. Mir; H. Iqbal; Y. Li; G. Nürnberg; C. Becker; R. Qamar; P. Nürnberg; B. Wollnik
Mol Syndromol (2010) 1 (1): 27–34. https://doi.org/10.1159/000276763
View articletitled, A Novel Familial <em>BBS12</em> Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
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Periventricular Heterotopia in Common Microdeletion Syndromes
M. van Kogelenberg; S. Ghedia; G. McGillivray; D. Bruno; R. Leventer; K. MacDermot; J. Nelson; L. Nagarajan; J.A. Veltman; A.P. de Brouwer; R.J. McKinlay Gardner; H. van Bokhoven; E.P. Kirk; S.P. Robertson
Mol Syndromol (2010) 1 (1): 35–41. https://doi.org/10.1159/000274491
View articletitled, Periventricular Heterotopia in Common Microdeletion Syndromes
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Short Report

A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally
Topic Article Package: Topic Article Package: Diabetes
E. Baple; R. Palmer; R.C.M. Hennekam
Mol Syndromol (2010) 1 (1): 42–45. https://doi.org/10.1159/000275671
View articletitled, A Microdeletion at 12q24.31 Can Mimic Beckwith-Wiedemann Syndrome Neonatally
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Original Article

Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of LRFN5 Expression
D.R.H. de Bruijn; A.H.A. van Dijk; R. Pfundt; A. Hoischen; G.F.M. Merkx; G.A. Gradek; H. Lybæk; A. Stray-Pedersen; H.G. Brunner; G. Houge
Mol Syndromol (2010) 1 (1): 46–57. https://doi.org/10.1159/000280290
View articletitled, Severe Progressive Autism Associated with Two de novo Changes: A 2.6-Mb 2q31.1 Deletion and a Balanced t(14;21)(q21.1;p11.2) Translocation with Long-Range Epigenetic Silencing of <em>LRFN5</em> Expression
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C.655C>T Variant of Sepiapterin Reductase Deficiency: Genetic and Bioinformatic Analysis
Association of MicroRNA-146a-5p Polymorphism with Cognitive Impairment in Adolescents with Depressive Disorder
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
A Report of Dual Presentations of Pseudo-TORCH Syndrome 1 and MCC2 Deficiency and Review of the Literature
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