(Q34727620)

4 August 2017

0 references

Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome (English)

1 reference

Rubinstein-Taybi syndrome

4 August 2017

0 references

1 reference

based on heuristic

inferred from title

congenital hypothyroidism

1 reference

Mustafa Ali Akın

1

1 reference

4 August 2017

Tamer Güneş

2

1 reference

4 August 2017

Leyla Akın

3

1 reference

4 August 2017

Dilek Çoban

4

1 reference

4 August 2017

Sena Kara Oncu

5

1 reference

4 August 2017

Aslıhan Kiraz

6

1 reference

4 August 2017

Selim Kurtoğlu

7

1 reference

4 August 2017

publication date

23 February 2011

1 reference

Journal of clinical research in pediatric endocrinology

4 August 2017

published in

1 reference

4 August 2017

volume

3

1 reference

4 August 2017

issue

1

1 reference

4 August 2017

page(s)

32-35

1 reference

Epidemiology of thyroid dysgenesis: the familial component

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Genetic analysis of the PAX8 gene in children with congenital hypothyroidism and dysgenetic or eutopic thyroid glands: identification of a novel sequence variant

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Monozygotic twins discordant for rubinstein-taybi syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Rubinstein-Taybi syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Thyroid volumes in newborns of different gestational ages: normative data.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Rubinstein-Taybi syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Congenital Hypothyroidism Associated with Rubinstein-Taybi Syndrome

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Thyroid function in Rubinstein-Taybi syndrome.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065314

Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21448332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21448332

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.4274/JCRPE.V3I1.07

1 reference

4 August 2017

1 reference

4 August 2017

1 reference