(Q34387746)

1 August 2017

title

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity (English)

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1 August 2017

main subject

Diamond-Blackfan anemia

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15

N F Olivieri

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1 August 2017

P Gustavsson

1

1 reference

1 August 2017

E Garelli

2

1 reference

1 August 2017

N Draptchinskaia

3

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1 August 2017

S Ball

4

1 reference

1 August 2017

T N Willig

5

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1 August 2017

D Tentler

6

1 reference

1 August 2017

I Dianzani

7

1 reference

1 August 2017

H H Punnett

8

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1 August 2017

F E Shafer

9

1 reference

1 August 2017

H Cario

10

1 reference

1 August 2017

U Ramenghi

11

1 reference

1 August 2017

A Glomstein

12

1 reference

1 August 2017

R A Pfeiffer

13

1 reference

1 August 2017

A Goringe

14

1 reference

1 August 2017

E Smibert

16

1 reference

1 August 2017

G Tchernia

17

1 reference

1 August 2017

G Elinder

18

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1 August 2017

N Dahl

19

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1 August 2017

language of work or name

English

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publication date

1 November 1998

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

63

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1 August 2017

issue

5

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1 August 2017

page(s)

1388-1395

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Erythrogenesis imperfecta

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

A comprehensive genetic map of the human genome based on 5,264 microsatellites

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

The pregnancy-specific glycoprotein (PSG) gene cluster on human chromosome 19: fine structure of the 11 PSG genes and identification of 6 new genes forming a third subgroup within the carcinoembryonic antigen (CEA) family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

An integrated metric physical map of human chromosome 19.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Congenital anemia and triphalangeal thumbs: A new syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Congenital (erythroid) hypoplastic anaemia: modified expression in males

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

An intrinsic progenitor defect in Diamond-Blackfan anaemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Diamond-blackfan anemia: etiology, pathophysiology, and treatment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Proposed role of drug-metabolizing enzymes: regulation of steady state levels of the ligands that effect growth, homeostasis, differentiation, and neuroendocrine functions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Long-range chromosomal mapping of the carcinoembryonic antigen (CEA) gene family cluster

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Congenital hypoplastic anemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Report an abstracts of the third international workshop on human chromosome 19 mapping 1996.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377548

Congenital hypoplastic anemia: another example of autosomal dominant transmission

27 October 2018

1 reference

12 December 2020

Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred

1 reference

12 December 2020

Diamond-Blackfan anemia. Natural history and sequelae of treatment

1 reference

12 December 2020

Severe congenital hypoplastic anemia. Transmission from a healthy female to opposite sex step-siblings

1 reference

12 December 2020

Red cell aplasia resembling Diamond-Blackfan anemia in seven children in a family

1 reference

12 December 2020

Identifiers

DOI

10.1086/302100

1 reference

1 August 2017

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1 August 2017

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