(Q36966119)

17 August 2017

Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome (English)

1 reference

17 August 2017

Rita Cabral

5

0 references

Chong Ae Kim

object named as

Chong Ae Kim

2

0 references

author name string

Mazen Kurban

1

1 reference

17 August 2017

Maija Kiuru

3

1 reference

17 August 2017

Katherine Fantauzzo

4

1 reference

17 August 2017

Ossama Abbas

6

1 reference

17 August 2017

Brynn Levy

7

1 reference

17 August 2017

Angela M Christiano

8

1 reference

17 August 2017

1 January 2011

1 reference

17 August 2017

1 reference

17 August 2017

223

1 reference

17 August 2017

4

1 reference

17 August 2017

316-320

1 reference

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

Cohesin and human disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

Long-range control of gene expression: emerging mechanisms and disruption in disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8) (p11.2; q22)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3696378

Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome

27 June 2018

1 reference

12 December 2020

Position effect in human genetic disease

1 reference

12 December 2020

A new case of Ambras syndrome associated with a paracentric inversion (8) (q12; q22)

1 reference

12 December 2020

1 reference

12 December 2020

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

1 reference

12 December 2020

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations

1 reference

12 December 2020

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

1 reference

12 December 2020

Genetic variations associated with psoriasis and psoriatic arthritis found by genome-wide association

1 reference

12 December 2020

Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1159/000333800

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

22310962

1 reference