(Q34750146)

4 August 2017

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title

Turner syndrome and haploinsufficiency (English)

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ORCID Public Data File 2021

4 August 2017

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author name string

Zinn AR

series ordinal

1

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PubMed ID

9690998

4 August 2017

Ross JL

series ordinal

2

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4 August 2017

1 June 1998

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Current Opinion in Genetics & Development

4 August 2017

1 reference

4 August 2017

8

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4 August 2017

3

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4 August 2017

322-327

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A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)

4 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Mechanisms of the effects of aneuploidy in mammals

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Turner syndrome: the case of the missing sex chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Functional coherence of the human Y chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Xp pseudoautosomal gene haploinsufficiency and linear growth deficiency in three girls with chromosome Xp22;Yq11 translocation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Short stature in a mother and daughter with terminal deletion of Xp22.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Growing interest in Turner syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

The sex-determining region of the human Y chromosome encodes a finger protein.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Chromosomal localisation of a gene(s) for Turner stigmata on Yp.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Turner syndrome: a study of chromosomal mosaicism.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

PCR-based detection of mosaicism in Turner syndrome patients

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Molecular studies of parental origin and mosaicism in 45,X conceptuses

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

The phenotype of a 45,X male with a Y/18 translocation

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

X-chromosome inactivation may explain the difference in viability of XO humans and mice

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Inactivation of the Rps4 gene on the mouse X chromosome.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Functional equivalence of human X- and Y-encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Structure and function of ribosomal protein S4 genes on the human and mouse sex chromosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Relationship between the monosomy X phenotype and Y-linked ribosomal protein S4 (Rps4) in several species of mammals: a molecular evolutionary analysis of Rps4 homologs

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Discriminant analysis of the Ullrich-Turner syndrome neurocognitive profile.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Human genetics. A father's imprint on his daughter's thinking.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Not everything is in the genes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Mosaicism in Turner's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Mosaicism in Turner's syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2898%2980089-0

7 January 2021

10.1016/S0959-437X(98)80089-0

Identifiers

DOI

1 reference

4 August 2017

1 reference

PubMed ID

9690998