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Issues

Volume 3, Issue 3
September 2012
Molecular Syndromology Cover Image for Volume 3, Issue 3
All Issues
ISSN 1661-8769
EISSN 1661-8777
In this Issue

Molecular Syndromology 2012, Vol. 3, No. 3

Editorial

Chromothripsis Challenges the Germline
M. Poot
Mol Syndromol (2012) 3 (3): 99–101. https://doi.org/10.1159/000341255
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Original Article

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions
R.N. Traylor; W.B. Dobyns; J.A. Rosenfeld; P. Wheeler; J.E. Spence; A.M. Bandholz; E.V. Bawle; E.P. Carmany; C.M. Powell; B. Hudson; R.A. Schultz; L.G. Shaffer; B.C. Ballif
Mol Syndromol (2012) 3 (3): 102–112. https://doi.org/10.1159/000342008
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A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children
K. Joost; R.J. Rodenburg; A. Piirsoo; L. van den Heuvel; R. Žordania; H. Põder; I. Talvik; K. Kilk; U. Soomets; K. Õunap
Mol Syndromol (2012) 3 (3): 113–119. https://doi.org/10.1159/000341375
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Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia
A. Serra; K. Eirich; A.K. Winkler; K. Mrasek; G. Göhring; G. Barbi; H. Cario; B. Schlegelberger; B. Royer-Pokora; T. Liehr; C. Leriche; D. Henne-Bruns; T.F. Barth; D. Schindler
Mol Syndromol (2012) 3 (3): 120–130. https://doi.org/10.1159/000341935
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Case Report

A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma
C. Córdova-Fletes; M.G. Domínguez; A. Vázquez-Cárdenas; L.E. Figuera; V.A. Neira; A. Rojas-Martínez; R. Ortiz-López
Mol Syndromol (2012) 3 (3): 131–135. https://doi.org/10.1159/000341632
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Short Report

MOTA Syndrome: Molecular Genetic Confirmation of the Diagnosis in a Newborn with Previously Unreported Clinical Features
D. Mitter; D. Schanze; I. Sterker; D. Müller; H. Till; M. Zenker
Mol Syndromol (2012) 3 (3): 136–139. https://doi.org/10.1159/000341501
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High Intellectual Function in Individuals with Mutation-Positive Microform Holoprosencephaly
B.D. Solomon; D.E. Pineda-Alvarez; A.L. Gropman; M.J. Willis; D.W. Hadley; M. Muenke
Mol Syndromol (2012) 3 (3): 140–142. https://doi.org/10.1159/000341373
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Erratum - A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome
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
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