(Q35039915)

English

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3

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scholarly article

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Europe PubMed Central

PubMed publication ID

5 August 2017

X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3 (English)

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Europe PubMed Central

PubMed publication ID

5 August 2017

congenital disorder

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1 reference

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inferred from title

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Feng Zhang

8

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object named as

Luis E Figuera

7

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author name string

Hongwen Zhu

1

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5 August 2017

Dandan Shang

2

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5 August 2017

Miao Sun

3

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5 August 2017

Sunju Choi

4

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5 August 2017

Qing Liu

5

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5 August 2017

Jiajie Hao

6

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5 August 2017

Kwong Wai Choy

9

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5 August 2017

Yang Ao

10

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5 August 2017

Yang Liu

11

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5 August 2017

Xiao-Lin Zhang

12

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5 August 2017

Fengzhen Yue

13

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5 August 2017

Ming-Rong Wang

14

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5 August 2017

Li Jin

15

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5 August 2017

Pragna I Patel

16

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5 August 2017

Tao Jing

17

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5 August 2017

Xue Zhang

18

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5 August 2017

language of work or name

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publication date

1 June 2011

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5 August 2017

American Journal of Human Genetics

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5 August 2017

88

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5 August 2017

6

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5 August 2017

819-826

1 reference

Europe PubMed Central

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5 August 2017

Identification of SOX3 as an XX male sex reversal gene in mice and humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Massively parallel sequencing and rare disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

X-chromosome terminal deletion in a female with premature ovarian failure: Haploinsufficiency of X-linked genes as a possible explanation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Structural variation in the human genome and its role in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

SKPs derive from hair follicle precursors and exhibit properties of adult dermal stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Sox2-positive dermal papilla cells specify hair follicle type in mammalian epidermis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Duplication hotspots, rare genomic disorders, and common disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Accurate whole human genome sequencing using reversible terminator chemistry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Hair follicle stem cells are specified and function in early skin morphogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Palindrome-mediated chromosomal translocations in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Sox9 is essential for outer root sheath differentiation and the formation of the hair stem cell compartment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

The cleft lip and palate defects in Dancer mutant mice result from gain of function of the Tbx10 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Inherited hypertrichoses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Interchromosomal insertions. Identification of five cases and a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Mapping of the congenital generalized hypertrichosis locus to chromosome Xq24-q27.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Atavisms and atavistic mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

A new form of hypertrichosis inherited as an X-linked dominant trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

8 July 2018

Exome sequencing deciphers rare diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

25 October 2018

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

25 October 2018

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

25 October 2018

Nature, genetics and the Niven factor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

25 October 2018

Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3113246

25 October 2018

Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait

1 reference

https://pubmed.ncbi.nlm.nih.gov/21636067

12 December 2020

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10.1016/J.AJHG.2011.05.004

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Europe PubMed Central

PubMed publication ID

5 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 August 2017

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