(Q40231541)

English

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment.

scientific article published on January 1983

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6618490%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6618490%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

Orsetta Zuffardi

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6618490%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

author name string

M Fraccaro

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6618490%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

E Bühler

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6618490%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

A Schinzel

4

1 reference

Europe PubMed Central

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15 October 2019

G Simoni

5

1 reference

Europe PubMed Central

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15 October 2019

R Witkowski

6

1 reference

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15 October 2019

E Bonifaci

7

1 reference

Europe PubMed Central

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15 October 2019

D Caufin

8

1 reference

Europe PubMed Central

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15 October 2019

G Cignacco

9

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15 October 2019

N Delendi

10

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15 October 2019

publication date

1 January 1983

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15 October 2019

1 reference

Europe PubMed Central

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15 October 2019

64

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15 October 2019

4

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15 October 2019

388-394

1 reference

Europe PubMed Central

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15 October 2019

https://scigraph.springernature.com/pub.10.1007/bf00292373

0 references

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Translocation of immunoglobulin VH genes in Burkitt lymphoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quinacrine fluorescence patterns in somatic chromosomes of a t(15q15q) carrier

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome and a bisatellited derivative of chromosome 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

15/15 translocation in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The cytogenetic controversy in the Prader-Labhart-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metacarpophalangeal pattern profile analysis in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Primary hypogonadism and 13/15 chromosome translocation in Prader-Labhart-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Preferential maternal derivation in inv dup(15): analysis of eight new cases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High Resolution of Human Chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal Translocation in a Mentally Deficient Child with Cryptorchidism

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High resolution R- and G-banding on the same preparation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A jumping translocation (5p;15q), (8q;15q), and (12q;15q) (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome and translocation 15/15

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 15/17 translocation in a patient with Prader-Labhart-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

(6;15) Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/6618490

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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