Chromosome imbalances associated with epilepsy (Q28189593)

American Journal of Medical Genetics Part A

Europe PubMed Central

title

Chromosome imbalances associated with epilepsy (English)

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author name string

A Schinzel

series ordinal

1

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D Niedrist

series ordinal

2

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language of work or name

English

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publication date

2001

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published in

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volume

106

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issue

2

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page(s)

119-24

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cites work

‘Puppet’ Children A Report on Three Cases

1 reference

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

21 January 2018

1 reference

Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis

21 January 2018

1 reference

The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

21 January 2018

1 reference

Chromosomal localization of GABAA receptor subunit genes: relationship to human genetic disease.

21 January 2018

1 reference

Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern

21 January 2018

1 reference

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

21 January 2018

1 reference

Characteristic EEG findings in ring 20 syndrome as a diagnostic clue.

21 January 2018

1 reference

The diagnostic value of the EEG in Angelman and Rett syndrome at a young age.

21 January 2018

1 reference

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

21 January 2018

1 reference

LISSENCEPHALY IN 2 SIBLINGS.

21 January 2018

1 reference

Angelman syndrome: correlations between epilepsy phenotypes and genotypes

21 January 2018

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Presence of telomeric and subtelomeric sequences at the fusion points of ring chromosomes indicates that the ring syndrome is caused by ring instability.

21 January 2018

1 reference

Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence.

21 January 2018

1 reference

Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome?

21 January 2018

1 reference

Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.

21 January 2018

1 reference

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

21 January 2018

1 reference

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

21 January 2018

1 reference

New chromosomal syndrome: Miller-Dieker syndrome and monosomy 17p13.

21 January 2018

1 reference

Lambotte syndrome: microcephaly, holoprosencephaly, intrauterine growth retardation, facial anomalies, and early lethality--a new sublethal multiple congenital anomaly/mental retardation syndrome in four sibs

21 January 2018

1 reference

A characteristic EEG pattern in 4p-syndrome: case report and review of the literature

21 January 2018

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Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.

21 January 2018

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A G-band study of chromosomes in liveborn infants

21 January 2018

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Evolution of epilepsy and EEG findings in Angelman syndrome

21 January 2018

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4p- Syndrome: A Chromosomal Disorder Associated with a Particular EEG Pattern

21 January 2018

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release_c533q62f4zai7bdvvga24zpy4i

21 January 2018

Identifiers

DOI

10.1002/AJMG.1576

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Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/c533q62f4zai7bdvvga24zpy4i