The gene for May-Hegglin anomaly localizes to a &lt;1-Mb region on chromosome 22q12.3-13.1. (Q33331942)

25 July 2017

0 references

The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. (English)

1 reference

25 July 2017

A Savoia

5

0 references

Nicola Bizzaro

4

object named as

N Bizzaro

1 reference

25 July 2017

7

R J Desnick

1 reference

25 July 2017

J A Martignetti

1

1 reference

25 July 2017

K E Heath

2

1 reference

25 July 2017

J Harris

3

1 reference

25 July 2017

C L Balduini

6

1 reference

25 July 2017

language of work or name

English

0 references

publication date

17 March 2000

1 reference

American Journal of Human Genetics

25 July 2017

1 reference

25 July 2017

66

1 reference

25 July 2017

1449-1454

1 reference

25 July 2017

4

1 reference

THE MAY-HEGGLIN ANOMALY; A FAMILY REPORT AND CHROMOSOME STUDY.

25 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

May-Hegglin anomaly. Hereditary affection of granulocytes and platelets.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Mapping of a gene for May-Hegglin anomaly to chromosome 22q.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

The DNA sequence of human chromosome 22

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

May-Hegglin anomaly and pregnancy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

May-Hegglin anomaly in a pregnancy complicated by intrauterine growth restriction and ambiguous genitalia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Sebastian syndrome: case report and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

The first Japanese family with Sebastian platelet syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Comprehensive human genetic maps: individual and sex-specific variation in recombination

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

May-Hegglin anomaly: a case of vaginal delivery when both mother and fetus are affected

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Fechtner syndrome: report of a third family and literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

LABMAN and LINKMAN: a data management system specifically designed for genome searches of complex diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

The Sebastian platelet syndrome. Report of the first native Saudi Arabian patient

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

The inclusions of the May-Hegglin anomaly and Döhle bodies of infection: an ultrastructural comparison.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Fechtner syndrome: clinical and genetic aspects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288213

Linkage of a familial platelet disorder with a propensity to develop myeloid malignancies to human chromosome 21q22.1-22.2

31 October 2018

1 reference

12 December 2020

The May-Hegglin anomaly: platelet function, ultrastructure and chromosome studies

1 reference

12 December 2020

The May-Hegglin anomaly; a case report and chromosome studies

1 reference

12 December 2020

The May-Hegglin Anomaly: Ultrastructure of the Granulocytic Inclusion

1 reference

12 December 2020

Defective neutrophil mobility in the May-Hegglin anomaly

1 reference

12 December 2020

Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes

1 reference

12 December 2020

May-Hegglin anomaly and uncomplicated vaginal delivery: a report of 41 cases

1 reference

12 December 2020

Identifiers

DOI

10.1086/302873

1 reference

25 July 2017

1 reference

25 July 2017

1 reference