(Q35113777)

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Paternal uniparental disomy 14: introducing the "coat-hanger" sign

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

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Europe PubMed Central

Paternal uniparental disomy 14: introducing the "coat-hanger" sign (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Amaka C. Offiah

1

object named as

Amaka C Offiah

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Europe PubMed Central

PubMed publication ID

6 August 2017

author name string

Luc Cornette

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Christine M Hall

3

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Europe PubMed Central

PubMed publication ID

6 August 2017

publication date

24 April 2003

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Europe PubMed Central

PubMed publication ID

6 August 2017

Pediatric Radiology

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Europe PubMed Central

PubMed publication ID

6 August 2017

33

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Europe PubMed Central

PubMed publication ID

6 August 2017

7

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Europe PubMed Central

PubMed publication ID

6 August 2017

509-512

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Europe PubMed Central

PubMed publication ID

6 August 2017

Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

International nosology and classification of constitutional disorders of bone (2001).

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal UPD14 is responsible for a distinctive malformation complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The lethal osteochondrodysplasias

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human elastin gene: new evidence for localization to the long arm of chromosome 7.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept).

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable clinical presentation of cutis laxa.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cutis laxa with intrauterine growth retardation and hip dislocation in a male

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternal uniparental disomy for chromosome 14: a case report and review

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Male with type II autosomal recessive cutis laxa

1 reference

https://pubmed.ncbi.nlm.nih.gov/12712270

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00247-003-0931-8

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

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