(Q41587054)

4 October 2017

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases. (English)

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4 October 2017

Prader–Willi syndrome

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J F Mattei

1

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4 October 2017

M G Mattei

series ordinal

2

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4 October 2017

F Giraud

series ordinal

3

1 reference

4 October 2017

1 January 1983

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4 October 2017

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4 October 2017

64

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4 October 2017

356-362

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4 October 2017

4

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https://scigraph.springernature.com/pub.10.1007/bf00292367

4 October 2017

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cites work

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents

1 reference

12 December 2020

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

1 reference

12 December 2020

[Prader, Labhardt and Willi syndrome (study of 11 cases)]

1 reference

12 December 2020

Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B.

1 reference

12 December 2020

A case of Prader-Willi syndrome in a girl with a small extra chromosome

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12 December 2020

A severely retarded male with deletion of chromosomes 15 (pter leads to q13) and 10 (q 26 leads to qter)

1 reference

12 December 2020

Prader-Willi syndrome and a bisatellited derivative of chromosome 15

1 reference

12 December 2020

15/15 translocation in Prader-Willi syndrome

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12 December 2020

A new case of Prader-Willi syndrome with chromosomal aberration.

1 reference

12 December 2020

A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11).

1 reference

12 December 2020

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

12 December 2020

Prader-Willi syndrome. (Hypotonia, obesity, hypogonadism, growth and mental retardation).

1 reference

12 December 2020

Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases

1 reference

12 December 2020

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

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12 December 2020

A new case of rearrangement of chromosome 15 associated with Prader Willi syndrome.

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12 December 2020

Mental retardation associated with "balanced" chromosome rearrangements

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12 December 2020

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

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12 December 2020

Systematic analysis of 95 reciprocal translocations of autosomes

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12 December 2020

Prader-Willi syndrome. Variable severity and recurrence risk

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12 December 2020

Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases

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12 December 2020

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

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12 December 2020

The Prader-Willi syndrome with a 15/3 translocation

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12 December 2020

Correlation between immunoglobulin light chain expression and variant translocation in Burkitt's lymphoma.

1 reference

12 December 2020

Prader-Willi syndrome. A resumé of 32 cases including an instance of affected first cousins, one of whom is of normal stature and intelligence

1 reference

12 December 2020

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00292367

1 reference

Dimensions Publication ID

4 October 2017

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1 reference