(Q36613437)

15 August 2017

Genetic considerations in the patient with Turner syndrome--45,X with or without mosaicism (English)

1 reference

15 August 2017

1 reference

Quincy Zhong

1

1 reference

PMCID

3573687

15 August 2017

Lawrence C Layman

series ordinal

2

1 reference

PMCID

3573687

15 August 2017

language of work or name

English

0 references

publication date

1 October 2012

1 reference

15 August 2017

Fertility and Sterility

1 reference

15 August 2017

98

1 reference

15 August 2017

4

1 reference

15 August 2017

775-779

1 reference

Short stature due to SHOX deficiency: genotype, phenotype, and therapy

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

X chromosome loss and ageing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Human gene mutations causing infertility

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of 'hidden' mosaicism.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Revised guidelines for the diagnosis of mosaicism in amniocytes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Pregnancy in patients with Turner's syndrome: six new cases and review of literature

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Aortic dilation, dissection, and rupture in patients with Turner syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Renal malformations in patients with Turner syndrome: imaging in 141 patients

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Cytogenetic and molecular analysis of sex-chromosome monosomy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Turner's syndrome--review of the literature with reference to a successful pregnancy outcome.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Determining the origin of human X isochromosomes by use of DNA sequence polymorphisms and detection of an apparent i(Xq) with Xp sequences

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

45,X/46,XY mosaicism: contrast of prenatal and postnatal diagnosis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Phenotypic and cytogenetic findings in eighty-two patients with ovarian failure--changing trends

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Turner syndrome: a cytogenetic and molecular study.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Molecular mapping of the putative gonadoblastoma locus on the Y chromosome.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3573687

The spectrum of gonadal dysgenesis. A clinical, cytogenetic, and pathologic study

4 December 2018

1 reference

12 December 2020

Classic pages in obstetrics and gynecology by Henry H. Turner. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology, vol. 23, pp. 566-574, 1938

1 reference

12 December 2020

A clinical and cytogenetic study of fifteen patients with 45,X/46XY gonadal dysgenesis

1 reference

12 December 2020

Delayed sexual development: a study of 252 patients

1 reference

12 December 2020

Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients

1 reference

12 December 2020

Laboratory guideline for Turner syndrome

1 reference

12 December 2020

SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndrome

1 reference

12 December 2020

10.1016/J.FERTNSTERT.2012.08.021

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

1 reference

PMCID

3573687