(Q33680104)

28 July 2017

1 reference

title

Partial trisomy 1(q42-->qter): a new case with a mild phenotype (English)

1 reference

28 July 2017

1 reference

Concolino D

1

1 reference

28 July 2017

Cinti R

2

1 reference

28 July 2017

Ferraro L

3

1 reference

28 July 2017

Moricca MT

4

1 reference

28 July 2017

Strisciuglio P

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 January 1998

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

35

1 reference

28 July 2017

issue

1

1 reference

28 July 2017

page(s)

75-77

1 reference

Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Trisomy 1q42 --> qter in a sister and brother: further delineation of the "trisomy 1q42 --> qter 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=1051194

A YAC contig map of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Dup(1q)(q42-->qter) syndrome: case report and review of 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=1051194

Partial trisomy 1 (q42 leads to ter).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter----8p23.1:).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Partial duplication 1q: report of four patients 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=1051194

Partial monosomy 8p with minimal dysmorphic signs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Deficiency of distal 8p--report of two cases 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=1051194

Duplication of the distal part of the long arm of chromosome 1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Distal 8p deletion (8p23.1----8pter): a common deletion?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

A second-generation linkage map of the human genome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051194

Trisomy (1q)(q42----qter): confirmation of a syndrome

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9475102

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Atrioventricular canal and 8p- syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9475102

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.35.1.75

1 reference

28 July 2017

1 reference

28 July 2017

1 reference