(Q30448494)

16 August 2017

Mutations in KCTD1 cause scalp-ear-nipple syndrome (English)

1 reference

scalp–ear–nipple syndrome

16 August 2017

0 references

0 references

22

1 reference

16 August 2017

14

Martine Le Merrer

0 references

Jeanne Amiel

15

Jeanne Amiel

1 reference

16 August 2017

Alexander G Marneros

1

0 references

Emily H Turner

Emily H Turner

3

0 references

Christopher T Gordon

Christopher T Gordon

12

0 references

Matthew Edwards

Matthew J Edwards

University of Washington Center for Mendelian Genomics

5

0 references

25

University of Washington Center for Mendelian Genomics

1 reference

16 August 2017

23

Deborah A Nickerson

1 reference

16 August 2017

24

Michael J Bamshad

1 reference

16 August 2017

2

Anita E Beck

1 reference

16 August 2017

20

Holly K Tabor

1 reference

Maria Luisa Giovannucci Uzielli

16 August 2017

11

Maria Luisa Giovannucci Uzielli

1 reference

16 August 2017

19

Brian I Labow

1 reference

16 August 2017

Margaret J McMillin

4

1 reference

16 August 2017

Michael Field

6

1 reference

16 August 2017

Nara Lygia de Macena Sobreira

7

1 reference

16 August 2017

Ana Beatriz A Perez

8

1 reference

16 August 2017

Jose A R Fortes

9

1 reference

16 August 2017

Anne K Lampe

10

1 reference

16 August 2017

Ghislaine Plessis

13

1 reference

16 August 2017

Ernst Reichenberger

16

1 reference

16 August 2017

Kathryn M Shively

17

1 reference

16 August 2017

Felecia Cerrato

18

1 reference

16 August 2017

Joshua D Smith

21

1 reference

16 August 2017

language of work or name

English

0 references

publication date

28 March 2013

1 reference

American Journal of Human Genetics

16 August 2017

1 reference

16 August 2017

92

1 reference

16 August 2017

4

1 reference

16 August 2017

621-626

1 reference

Fast and accurate short read alignment with Burrows-Wheeler transform

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

The interaction of KCTD1 with transcription factor AP-2alpha inhibits its transactivation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

TFAP2A mutations result in branchio-oculo-facial syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Characterization and expression of a human KCTD1 gene containing the BTB domain, which mediates transcriptional repression and homomeric interactions

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Miz1 is required for hair follicle structure and hair morphogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Crystal structure of the BTB domain from PLZF

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Scalp-ear-nipple syndrome: additional manifestations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

The BTB domain, found primarily in zinc finger proteins, defines an evolutionarily conserved family that includes several developmentally regulated genes in Drosophila

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

An hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Finlay-Marks syndrome: Report of two siblings and review of literature

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Hypotonia, developmental delay and features of scalp???ear???nipple syndrome in an inbred Arab family

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Finlay-Marks Syndrome: Another sporadic case and additional manifestations

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Stahl ear deformity associated with Finlay-Marks syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3617379

Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23541344

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Finlay-Marks (SEN) syndrome: a sporadic case and the delineation of the syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23541344

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.03.002

1 reference

16 August 2017

1 reference

16 August 2017

1 reference