(Q24682812)

11

0 references

Thomy de Ravel

12

0 references

Juliane Hoyer

3

0 references

Anita Rauch

20

0 references

André Reis

18

object named as

Andre Reis

0 references

Raoul Hennekam

14

object named as

Raoul C M Hennekam

0 references

author name string

Christiane Zweier

1

0 references

Maarit M Peippo

2

0 references

Sergio Sousa

4

0 references

Armand Bottani

5

0 references

William Reardon

7

0 references

Jorge Saraiva

8

0 references

Alexandra Cabral

9

0 references

Ina Gohring

10

0 references

Emilia K Bijlsma

13

0 references

Alfredo Orrico

15

0 references

Monika Cohen

16

0 references

Alexander Dreweke

17

0 references

Peter Nurnberg

American Journal of Human Genetics

19

0 references

language of work or name

English

0 references

publication date

May 2007

0 references

published in

0 references

volume

80

0 references

issue

5

0 references

page(s)

994-1001

0 references

cites work

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

ZFHX1B mutations in patients with Mowat-Wilson syndrome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Molecular karyotyping in human constitutional cytogenetics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Molecular karyotyping using an SNP array for genomewide genotyping.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Hirschsprung disease, associated syndromes, and genetics: a review

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

A splice variant of E2-2 basic helix-loop-helix protein represses the brain-specific fibroblast growth factor 1 promoter through the binding to an imperfect E-box

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Pitt-Hopkins syndrome in two patients and further definition of the phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Mental retardation, ?coarse? face, and hyperbreathing: Confirmation of the Pitt-Hopkins syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

A syndrome of mental retardation, wide mouth and intermittent overbreathing

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Clinical and mutational spectrum of Mowat-Wilson syndrome

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Possible case of Pitt-Hopkins syndrome in sibs

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

The basic helix-loop-helix transcription factor E2-2 is involved in T lymphocyte development

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

Mental retardation, macrostomia and hyperpnoea syndrome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852727

MASH-1/RET pathway involvement in development of brain stem control of respiratory frequency in newborn mice

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17436255

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The pT alpha promoter and enhancer are direct targets for transactivation by E box-binding proteins

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17436255

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/515583

1 reference

1 reference

1 reference

PubMed publication ID

17436255

1 reference