(Q39817063)

14 September 2017

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. (English)

1 reference

14 September 2017

microdeletion syndrome

1 reference

7

Stefan Mundlos

1 reference

14 September 2017

Eva Klopocki

1

0 references

Luitgard Graul-Neumann

series ordinal

2

object named as

Luitgard M Graul-Neumann

1 reference

14 September 2017

6

Denise Horn

1 reference

14 September 2017

5

Hans-Hilger Ropers

1 reference

14 September 2017

Ulrike Grieben

3

1 reference

14 September 2017

Holger Tönnies

series ordinal

4

1 reference

14 September 2017

Reinhard Ullmann

series ordinal

8

1 reference

14 September 2017

12 October 2007

1 reference

European Journal of Pediatrics

14 September 2017

1 reference

14 September 2017

167

1 reference

14 September 2017

8

1 reference

14 September 2017

903-908

1 reference

https://scigraph.springernature.com/pub.10.1007/s00431-007-0616-7

14 September 2017

0 references

cites work

What's new in the neuro-cardio-facial-cutaneous syndromes?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Characterization of a recurrent 15q24 microdeletion syndrome.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Man2C1, an alpha-mannosidase, is involved in the trimming of free oligosaccharides in the cytosol

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Secretory carrier membrane proteins interact and regulate trafficking of the organellar (Na+,K+)/H+ exchanger NHE7

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

CGHPRO -- a comprehensive data analysis tool for array CGH.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

A set of BAC clones spanning the human genome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Congenital disorders of glycosylation

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

A bacterial artificial chromosome library for sequencing the complete human genome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Molecular biology of steroid hormone synthesis

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Interstitial deletion of chromosome 15: two cases

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

A report of three patients with an interstitial deletion of chromosome 15q24.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2757600

Del(15)(q22q24) syndrome with Potter sequence

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17932688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Monosomy and trisomy of 15q24----qter in a family with a translocation t(6;15)(p25;q24)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17932688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Two cases of prenatally diagnosed diaphragmatic hernia accompanied by the same undescribed chromosomal deletion (15q24 de novo)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17932688

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00431-007-0616-7

1 reference

14 September 2017

1 reference

14 September 2017

PubMed publication ID

17932688

1 reference