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Volume 11, Issue 1
March 2020
Molecular Syndromology Cover Image for Volume 11, Issue 1
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2020, Vol. 11, No. 1

Editorial - Late Breaking Chromosomes

Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes
Martin Poot
Mol Syndromol (2020) 11 (1): 1–3. https://doi.org/10.1159/000506410
View articletitled, Mutated NUP188 and Other Nucleoporins as Gateways to Developmental Syndromes
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Original Article

Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
Muhsin Elmas; Basak Gogus
Mol Syndromol (2020) 11 (1): 4–14. https://doi.org/10.1159/000505800
View articletitled, Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience
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Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the MAPK1 Gene
Ana I. Sánchez; Mary A. García-Acero; Angela Paredes; Rossi Quero; Rita I. Ortega; Jorge A. Rojas; Daniel Herrera; Miguel Parra; Karol Prieto; Juana Ángel; Luz-Stella Rodríguez; Juan C. Prieto; Manuel Franco
Mol Syndromol (2020) 11 (1): 15–23. https://doi.org/10.1159/000506032
View articletitled, Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the <strong><em>MAPK1</em></strong> Gene
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Novel Insights from Clinical Practice

Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
Augusto C. Cardoso-dos-Santos; Thiago Oliveira Silva; Anderson Silveira Faccini; Thayne Woycinck Kowalski; Aida Bertoli-Avella; Jonas A. Morales Saute; Lavinia Schuler-Faccini; Fabiano de Oliveira Poswar
Mol Syndromol (2020) 11 (1): 24–29. https://doi.org/10.1159/000505843
View articletitled, Novel <strong><em>AHDC1</em></strong> Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
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A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia
Christiane M. Neuhofer; Rudolf Funke; Bernd Wilken; Alexej Knaus; Janine Altmüller; Peter Nürnberg; Yun Li; Bernd Wollnik; Peter Burfeind; Silke Pauli
Mol Syndromol (2020) 11 (1): 30–37. https://doi.org/10.1159/000505797
View articletitled, A Novel Mutation in <strong><em>PIGA</em></strong> Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia
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Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)
Gizem Ürel-Demir; Özlem Akgün-Doğan; Sümeyra Oğuz; Naz Güleray-Lafcı; Pelin Özlem Şimşek-Kiper; Gülen Eda Utine; Mehmet Alikaşifoğlu; Koray Boduroğlu
Mol Syndromol (2020) 11 (1): 38–42. https://doi.org/10.1159/000505141
View articletitled, Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20)
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Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred
Ranjana Mishra; Vibha Jain; Deepti Gupta; Renu Saxena; Samarth Kulshreshtha; Vedam L. Ramprasad; Ishwar C. Verma; Ratna Dua Puri
Mol Syndromol (2020) 11 (1): 43–49. https://doi.org/10.1159/000505506
View articletitled, Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred
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Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure
Christopher M. Richmond; Sally Campbell; Hee W. Foo; Sebastian Lunke; Zornitza Stark; Amanda Moody; Elizabeth Bannister; Anthea Greenway; Natasha Brown
Mol Syndromol (2020) 11 (1): 50–55. https://doi.org/10.1159/000505886
View articletitled, Rapid Identification of Biallelic <strong><em>SPTB</em></strong> Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure
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Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia
Şule Altıner; Senol Ardic; Alper H. Çebi
Mol Syndromol (2020) 11 (1): 56–58. https://doi.org/10.1159/000505887
View articletitled, Extending the Phenotypic Spectrum of Huntington Disease: Hypothermia
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Clinical and Genetic Aspects of Verheij Syndrome in Two Cases
A Novel De Novo Exceptional Complex Chromosomal Rearrangement Involving 5 Chromosomes Resulting in Neurodevelopmental Delay and Dysmorphism
A novel PTCH1 non-canonical splice region variant associated with Gorlin syndrome: case report
Genotype-phenotype analysis and new clinical findings in a series of 24 patients presenting with Noonan syndrome and related disorders
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