Breakpoints around the HOXD cluster result in various limb malformations

B Dlugaszewska; A Silahtaroglu; C Menzel; S Kübart; Malene Cohen; S Mundlos; Z Tümer; Klaus Wilbrandt Kjær; U Friedrich; H-H Ropers; N Tommerup; H Neitzel; V M Kalscheuer

doi:10.1136/jmg.2005.033555

Breakpoints around the HOXD cluster result in various limb malformations

B Dlugaszewska, A Silahtaroglu, C Menzel, S Kübart, Malene Cohen, S Mundlos, Z Tümer, Klaus Wilbrandt Kjær, U Friedrich, H-H Ropers, N Tommerup, H Neitzel, V M Kalscheuer

Department of Cellular and Molecular Medicine

39 Citations (Scopus)

Abstract

Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.

Original language	English
Journal	Journal of Medical Genetics
Volume	43
Issue number	2
Pages (from-to)	111-118
Number of pages	8
ISSN	1468-6244
DOIs	https://doi.org/10.1136/jmg.2005.033555
Publication status	Published - 2006

Keywords

Adolescent
Adult
Chromosome Breakage
Chromosome Mapping
Chromosomes, Human, Pair 2
Computational Biology
Female
Homeodomain Proteins
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Karyotyping
Limb Deformities, Congenital
Male
Multigene Family
Mutation
Transcription Factors

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10.1136/jmg.2005.033555

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title = "Breakpoints around the HOXD cluster result in various limb malformations",

abstract = "Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.",

keywords = "Adolescent, Adult, Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 2, Computational Biology, Female, Homeodomain Proteins, Humans, In Situ Hybridization, Fluorescence, Infant, Newborn, Karyotyping, Limb Deformities, Congenital, Male, Multigene Family, Mutation, Transcription Factors",

author = "B Dlugaszewska and A Silahtaroglu and C Menzel and S K{\"u}bart and Malene Cohen and S Mundlos and Z T{\"u}mer and Kj{\ae}r, {Klaus Wilbrandt} and U Friedrich and H-H Ropers and N Tommerup and H Neitzel and Kalscheuer, {V M}",

year = "2006",

doi = "10.1136/jmg.2005.033555",

language = "English",

volume = "43",

pages = "111--118",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "B M J Group",

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TY - JOUR

T1 - Breakpoints around the HOXD cluster result in various limb malformations

AU - Dlugaszewska, B

AU - Silahtaroglu, A

AU - Menzel, C

AU - Kübart, S

AU - Cohen, Malene

AU - Mundlos, S

AU - Tümer, Z

AU - Kjær, Klaus Wilbrandt

AU - Friedrich, U

AU - Ropers, H-H

AU - Tommerup, N

AU - Neitzel, H

AU - Kalscheuer, V M

PY - 2006

Y1 - 2006

N2 - Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.

AB - Characterisation of disease associated balanced chromosome rearrangements is a promising starting point in the search for candidate genes and regulatory elements.

KW - Adolescent

KW - Adult

KW - Chromosome Breakage

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 2

KW - Computational Biology

KW - Female

KW - Homeodomain Proteins

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Infant, Newborn

KW - Karyotyping

KW - Limb Deformities, Congenital

KW - Male

KW - Multigene Family

KW - Mutation

KW - Transcription Factors

U2 - 10.1136/jmg.2005.033555

DO - 10.1136/jmg.2005.033555

M3 - Journal article

C2 - 15980115

SN - 0022-2593

VL - 43

SP - 111

EP - 118

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 2

ER -

Breakpoints around the HOXD cluster result in various limb malformations

Abstract

Keywords

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