4.0 Article

19q13.11 microdeletion concomitant with ins (2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Phenotypic and Molecular Characterization of 19q12q13.1 Deletions: A Report of Five Patients

Shimul Chowdhury et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Biochemistry & Molecular Biology

The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R. MacDonald et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Biochemistry & Molecular Biology

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

Eugene Bragin et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Neurosciences

Protein Sumoylation in Brain Development, Neuronal Morphology and Spinogenesis

Carole Gwizdek et al.

NEUROMOLECULAR MEDICINE (2013)

Article Biochemistry & Molecular Biology

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

Andrea Franceschini et al.

NUCLEIC ACIDS RESEARCH (2013)

Article Biochemistry & Molecular Biology

19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias

Simone Gana et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Article Genetics & Heredity

19q13 microdeletion syndrome: Further refining the critical region

Francesca Forzano et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2012)

Article Biochemistry & Molecular Biology

Rapid Sequence and Expression Divergence Suggest Selection for Novel Function in Primate-Specific KRAB-ZNF Genes

Katja Nowick et al.

MOLECULAR BIOLOGY AND EVOLUTION (2010)

Article Genetics & Heredity

Characterising and Predicting Haploinsufficiency in the Human Genome

Ni Huang et al.

PLOS GENETICS (2010)

Letter Genetics & Heredity

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

J. H. M. Schuurs-Hoeijmakers et al.

JOURNAL OF MEDICAL GENETICS (2009)