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Issues

Volume 9, Issue 5
November 2018 2019
Molecular Syndromology Cover Image for Volume 9, Issue 5
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2018, Vol. 9, No. 5

Editorial - Late Breaking Chromosomes

The Right Gene, Expressed at the Wrong Time, or at the Wrong Place
Martin Poot
Mol Syndromol (2019) 9 (5): 225–227. https://doi.org/10.1159/000492608
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Original Article

A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss
Ragnhild Drage Berentsen; Bjørn I. Haukanes; Pétur B. Júlíusson; Karen Rosendahl; Gunnar Houge
Mol Syndromol (2019) 9 (5): 228–234. https://doi.org/10.1159/000492418
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Novel Insights from Clinical Practice

Interstitial Deletion of 5q22.2q23.1 Including APC and TSSK1B in a Patient with Adenomatous Polyposis and Asthenoteratozoospermia
Tanya Kadiyska; Ivan Tourtourikov; Asen Petrov; Ani Chavoushian; Miglena Antalavicheva; Eva-Maria König; Eva Klopocki; Nikolova Vessela; Romil Stanislavov
Mol Syndromol (2019) 9 (5): 235–240. https://doi.org/10.1159/000492516
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Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
Eirini Dikaiakou; Elpis A. Vlachopapadopoulou; Emanouil Manolakos; Panagiotis Samelis; Rodanthi Margariti; Christos Zampakides; Stefanos Michalacos
Mol Syndromol (2019) 9 (5): 241–246. https://doi.org/10.1159/000492190
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An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient
Carla Lintas; Roberto Sacco; Claudio Tabolacci; Claudia Brogna; Marco Canali; Chiara Picinelli; Pasquale Tomaiuolo; Paola Castronovo; Marco Baccarin; Antonio M. Persico
Mol Syndromol (2019) 9 (5): 247–252. https://doi.org/10.1159/000491802
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Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
Piero Pavone; Giovanni Corsello; Silvia Marino; Martino Ruggieri; Raffaele Falsaperla
Mol Syndromol (2019) 9 (5): 253–258. https://doi.org/10.1159/000493174
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Original Article

Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review
Anna Sandestig; Anna Green; Jon Jonasson; Hartmut Vogt; Johan Wahlström; Alexander Pepler; Katarina Ellnebo; Saskia Biskup; Margarita Stefanova
Mol Syndromol (2019) 9 (5): 259–265. https://doi.org/10.1159/000492267
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Short Report

A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR
Nilay Güneş; Emre Taşdemir; Heather Jeffery; Hüseyin Yetik; Pia Ostergaard; Beyhan Tüysüz
Mol Syndromol (2019) 9 (5): 266–270. https://doi.org/10.1159/000491568
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Obituary

Michael Schmid (1948-2018): A Life Devoted to Science
Holger Höhn
Mol Syndromol (2019) 9 (5): 271–274. https://doi.org/10.1159/000494233
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Identification of the genetic causes of inherited diseases in a North African biobank: implications for genetic diagnosis
HIRA, NKX2-5 and GATA4 alterations versus cardiac malformations related to 22q11.2 deletion syndrome.
Pamidronate Treatment of a patient with Opsismodysplasia and a novel INPPL1 variant – Efficacy, Mechanism and Clinical Outcomes
Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients
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