Drahuse Novotna

Prague, PR 15006, Czech Republic

Last Updated: 09/26/2026

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Found 12 publications

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.

Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy.

Journal: Human mutation

Published: October 17, 2023

A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.

A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.

Journal: American journal of medical genetics. Part A

Published: September 06, 2022

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.

Journal: Molecular cytogenetics

Published: February 05, 2018

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly.

Journal: Human mutation

Published: October 02, 2017

Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report

Fanconi Anemia, Complementation Group D1 Caused by Biallelic Mutations of BRCA2 Gene--Case Report

Journal: Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti

Published: December 23, 2015

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

Journal: European journal of medical genetics

Published: August 14, 2015

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

A 15 Mb large paracentric chromosome 21 inversion identified in Czech population through a pair of flanking duplications.

Journal: Molecular cytogenetics

Published: April 09, 2014

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8.

Journal: American journal of medical genetics. Part A

Published: March 14, 2014

45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology.

45,X/46,X,psu dic(Y) gonadal dysgenesis: influence of the two cell lines on the clinical phenotype, including gonadal histology.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: August 13, 2013

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius.

Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 14, 2013

Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency.

Bone geometry and volumetric bone density at the radius in patients with isolated SHOX deficiency.

Journal: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association

Published: February 22, 2013

Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.

Mechanism and genotype-phenotype correlation of two proximal 6q deletions characterized using mBAND, FISH, array CGH, and DNA sequencing.

Journal: Cytogenetic and genome research

Published: December 14, 2011

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Last Updated: 09/26/2026