Volume 8; Issue 2

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Molecular Syndromology
Volume 8; Issue 2

Molecular Syndromology

Volume 8; Issue 2

1

A Female Patient with FMR1 Premutation and Mosaic X Chromosome Aneuploidy and Two Sons with Intellectual Disability

Galanina, Ekaterina M., Tulupov, Andrey A., Lemskaya, Natalya A., Korostyshevskaya, Aleksandra M., Maksimova, Yuliya V., Shorina, Asia R., Savelov, Andrey A., Sergeeva, Irina G., Isanova, Evgeniya R.,

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 171 KB

english, 2017

2

Retrotransposing Gremlins May Disrupt Our Brain's Genomes

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 57 KB

english, 2017

3

Hippocampal Characteristics and Invariant Sequence Elements Distribution of GLRA2 and GLRA3 C-to-U Editing

Schaefermeier, Philipp, Heinze, Sarah

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 2.09 MB

english, 2017

4

First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis

Suspitsin, Evgeny N., Sibgatullina, Farida I., Lyazina, Lydia V., Imyanitov, Evgeny N.

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 122 KB

english, 2017

5

Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis

Messina-Baas, Olga, Cuevas-Covarrubias, Sergio A.

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 825 KB

english, 2017

6

Familial 5q12.3 Microdeletion: Evidence for a Locus Associated with Epilepsy

Gnan, Chiara, Franzoni, Alessandra, Baldan, Federica, Passon, Nadia, Damante, Giuseppe, Dello Russo, Patrizia

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 211 KB

english, 2017

7

A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1

Ullah, Asmat, Hammid, Anam, Umair, Muhammad, Ahmad, Wasim

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 190 KB

english, 2017

8

A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome

Hassed, Susan J., Li, Shibo, Xu, Weihong, Taylor, Ashley C.

Journal:

Molecular Syndromology

Year:

2017

Language:

english

File:

PDF, 87 KB

english, 2017