(Q52019068)

19 April 2018

title

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis (English)

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19 April 2018

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J A Crolla

1

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19 April 2018

J F Harvey

series ordinal

2

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19 April 2018

F L Sitch

series ordinal

3

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19 April 2018

N R Dennis

series ordinal

4

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19 April 2018

publication date

1 February 1995

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19 April 2018

published in

Human Genetics

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19 April 2018

volume

95

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19 April 2018

issue

2

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19 April 2018

page(s)

161-170

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19 April 2018

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

cites work

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12 December 2020

Organization of a repetitive human 1.8 kb KpnI sequence localized in the heterochromatin of chromosome 15

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12 December 2020

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1 reference

12 December 2020

Clinical and molecular analysis of five inv dup(15) patients.

1 reference

12 December 2020

Bisatellited extra small metacentric chromosome in newborns

1 reference

12 December 2020

A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man

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12 December 2020

Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

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12 December 2020

Duplication of proximal 15q as a cause of Prader-Willi syndrome

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12 December 2020

Prader-Willi syndrome and a bisatellited derivative of chromosome 15

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12 December 2020

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

1 reference

12 December 2020

Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16

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12 December 2020

Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes

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12 December 2020

Meiotic configurations in female trisomy 21 foetuses

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12 December 2020

A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11).

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12 December 2020

A simple salting out procedure for extracting DNA from human nucleated cells

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12 December 2020

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

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12 December 2020

[Trisomy 21 by translocation (21q,21q) in two sibs of a mother with a supernumerary microchromosome (author's transl)]

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12 December 2020

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

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12 December 2020

Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).

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12 December 2020

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12 December 2020

Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics

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12 December 2020

Meiosis in trisomic female mice with Robertsonian translocations. I. Prophase pairing

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12 December 2020

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

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12 December 2020

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

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12 December 2020

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

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12 December 2020

Triple chromosome synapsis in oocytes from a human foetus with trisomy 21

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12 December 2020

Identification of two distinct subfamilies of alpha satellite DNA that are highly specific for human chromosome 15.

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12 December 2020

A comment on the paper: Recurrence of down syndrome associated with microchromosome by C. Ramos, L. Rivera, J. Benitez, E. Tejedor, and A. Sanchez-Cascos

1 reference

12 December 2020

Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion

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12 December 2020

Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide antibiotic, distamycin A.

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12 December 2020

Forty four probands with an additional "marker" chromosome

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12 December 2020

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

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12 December 2020

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

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12 December 2020

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases

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12 December 2020

Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes

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12 December 2020

Genomic imprinting: review and relevance to human diseases.

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12 December 2020

Recurrence of Down syndrome associated with microchromosome

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12 December 2020

Identifiers

DOI

10.1007/BF00209395

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19 April 2018

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19 April 2018