Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome (Q34743172)

4 August 2017

title

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

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https://api.crossref.org/works/10.1086/515520

4 August 2017

Chromosome 1p36 Deletions: The Clinical Phenotype and Molecular Characterization of a Common Newly Delineated Syndrome (English)

1 reference

19 November 2024

1 reference

chromosomal deletion syndrome

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326330

19 November 2024

S. K. Shapira

1 reference

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19 November 2024

C. McCaskill

1 reference

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19 November 2024

H. Northrup

1 reference

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19 November 2024

A. S. Spikes

1 reference

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19 November 2024

F. F. Elder

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19 November 2024

V. R. Sutton

1 reference

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19 November 2024

J. R. Korenberg

1 reference

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19 November 2024

F. Greenberg

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19 November 2024

L. G. Shaffer

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19 November 2024

language of work or name

English

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publication date

1 September 1997

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4 August 2017

September 1997

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9326330

full work available at URL

19 November 2024

https://doi.org/10.1086/515520

online access status

open access

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https://europepmc.org/articles/PMC1715949

19 November 2024

1 reference

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https://europepmc.org/articles/PMC1715949?pdf=render

19 November 2024

file format

Portable Document Format

online access status

open access

content deliverer

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9326330

https://api.elsevier.com/content/article/PII:S0002929707643286?httpAccept=text/xml

19 November 2024

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https://api.crossref.org/works/10.1086/515520

https://api.elsevier.com/content/article/PII:S0002929707643286?httpAccept=text/plain

19 November 2024

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American Journal of Human Genetics

19 November 2024

published in

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4 August 2017

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4 August 2017

1 reference

4 August 2017

page(s)

642-650

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3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME

4 August 2017

cites work

1 reference

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Partial monosomy of chromosome 1p36.3: characterization of the critical region and delineation of a syndrome

7 July 2018

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Constitutional 1p36 deletion in a child with neuroblastoma.

7 July 2018

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Down syndrome phenotypes: the consequences of chromosomal imbalance

7 July 2018

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7 July 2018

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Evidence for a distinct region causing a cat-like cry in patients with 5p deletions.

7 July 2018

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Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features.

7 July 2018

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Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes

7 July 2018

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The ascertainment and implications of an unbalanced translocation in the neonate. Familial 1:15 translocation

7 July 2018

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Deficiency on the short arms of a chromosome No. 4

7 July 2018

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Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

7 July 2018

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Clinical consequences of deletion 1p35.

7 July 2018

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Prader-Willi syndrome: current understanding of cause and diagnosis

7 July 2018

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Increased expression of a 58-kDa protein kinase leads to changes in the CHO cell cycle

7 July 2018

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Reciprocal translocation t(1;15)(p36.2;p11.2): confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p).

7 July 2018

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Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

7 July 2018

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The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features

7 July 2018

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An integrated transcript map of human chromosome 1p35-p36.

7 July 2018

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Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome

26 October 2018

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New syndrome associated with partial deletion of short arms of chromosome No. 4. Clinical manifestations of hypospadias, beaked nose, abnormal iris, hemangioma of forehead, seizures, and other anomalies

26 October 2018

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12 December 2020

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12 December 2020

The level of 6-phosphogluconate dehydrogenase (6-PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub-band p36.3 on chromosome 1

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12 December 2020

A hypervariable repeated sequence on human chromosome 1p36

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Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

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A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration

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Identifiers

DOI

10.1086/515520

1 reference

4 August 2017

1 reference

4 August 2017

1 reference