Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

J M Hertz; B Sivertsen; A Silahtaroglu; M Bugge; V Kalscheuer; A Weber; J Wirth; H-H Ropers; N Tommerup; Z Tümer

doi:10.1136/jmg.2003.011510

Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

J M Hertz, B Sivertsen, A Silahtaroglu, M Bugge, V Kalscheuer, A Weber, J Wirth, H-H Ropers, N Tommerup, Z Tümer

5 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	Journal of Medical Genetics
Vol/bind	41
Udgave nummer	3
Sider (fra-til)	e25
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmg.2003.011510
Status	Udgivet - mar. 2004
Udgivet eksternt	Ja

Adgang til dokumentet

10.1136/jmg.2003.011510

Citationsformater

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keywords = "Adult, Age of Onset, Cerebellar Ataxia/genetics, Child, Child, Preschool, Chromosome Breakage/genetics, Chromosomes, Human, Pair 20/genetics, Chromosomes, Human, Pair 8/genetics, Disease Progression, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Karyotyping, Male, Middle Aged, Pedigree, Physical Chromosome Mapping, Translocation, Genetic/genetics",

author = "Hertz, {J M} and B Sivertsen and A Silahtaroglu and M Bugge and V Kalscheuer and A Weber and J Wirth and H-H Ropers and N Tommerup and Z T{\"u}mer",

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T1 - Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13)

AU - Hertz, J M

AU - Sivertsen, B

AU - Silahtaroglu, A

AU - Bugge, M

AU - Kalscheuer, V

AU - Weber, A

AU - Wirth, J

AU - Ropers, H-H

AU - Tommerup, N

AU - Tümer, Z

PY - 2004/3

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KW - Age of Onset

KW - Cerebellar Ataxia/genetics

KW - Child

KW - Child, Preschool

KW - Chromosome Breakage/genetics

KW - Chromosomes, Human, Pair 20/genetics

KW - Chromosomes, Human, Pair 8/genetics

KW - Disease Progression

KW - Female

KW - Humans

KW - In Situ Hybridization, Fluorescence

KW - Infant

KW - Karyotyping

KW - Male

KW - Middle Aged

KW - Pedigree

KW - Physical Chromosome Mapping

KW - Translocation, Genetic/genetics

U2 - 10.1136/jmg.2003.011510

DO - 10.1136/jmg.2003.011510

M3 - Journal article

C2 - 14985396

SN - 0022-2593

VL - 41

SP - e25

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 3

ER -