(Q54040009)

24 May 2018

title

Narrowing critical regions and determining penetrance for selected 18q- phenotypes. (English)

1 reference

24 May 2018

author

Peter T. Fox

15

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24 May 2018

author name string

Jannine D Cody

1

1 reference

24 May 2018

Patricia L Heard

2

1 reference

24 May 2018

Analisa C Crandall

3

1 reference

24 May 2018

Erika M Carter

4

1 reference

24 May 2018

John Li

5

1 reference

24 May 2018

L Jean Hardies

6

1 reference

24 May 2018

Jack Lancaster

7

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24 May 2018

Brian Perry

8

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24 May 2018

Robert F Stratton

9

1 reference

24 May 2018

Courtney Sebold

10

1 reference

24 May 2018

Rebecca L Schaub

11

1 reference

24 May 2018

Bridgette Soileau

12

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24 May 2018

Annice Hill

13

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24 May 2018

Minire Hasi

14

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24 May 2018

Daniel E Hale

16

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24 May 2018

language of work or name

English

0 references

publication date

1 July 2009

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24 May 2018

American Journal of Medical Genetics

published in

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24 May 2018

volume

149A

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24 May 2018

issue

7

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24 May 2018

page(s)

1421-1430

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24 May 2018

High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)

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25 May 2018

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Tshz1 is required for axial skeleton, soft palate and middle ear development in mice

25 May 2018

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Myelination in children with partial deletions of chromosome 18q.

25 May 2018

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Segmental haplosufficiency: transmitted deletions of 2p12 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences.

25 May 2018

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Detection of large-scale variation in the human genome

25 May 2018

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Penetrance and expressivity in the molecular age

25 May 2018

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Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT.

25 May 2018

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The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes

25 May 2018

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Gene expression patterns in cell lines from patients with 18q- syndrome

25 May 2018

1 reference

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Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q.

25 May 2018

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A deletion in the long arm of chromosome 18 in a child with serum carnosinase deficiency.

25 May 2018

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Myelin mutants: model systems for the study of normal and abnormal myelination

25 May 2018

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The molecular basis of genetic dominance

25 May 2018

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25 May 2018

Congenital aural atresia

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Chromosomal mapping of mouse myelin basic protein gene and structure and transcription of the partially deleted gene in shiverer mutant mice

25 May 2018

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Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark

25 May 2018

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Structure and Function of Myelin Protein Genes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

18q deletions: clinical, molecular, and brain MRI findings of 14 individuals.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

Critical role for GALR1 galanin receptor in galanin regulation of neuroendocrine function and seizure activity

13 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome: evidence for myelin basic protein haploinsufficiency

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

Expression of only one myelin basic protein allele in mouse is compatible with normal myelination.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5325704

Growth hormone insufficiency associated with haploinsufficiency at 18q23

30 November 2018

1 reference

12 December 2020

Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3-->q21

1 reference

12 December 2020

Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liabilit

1 reference

12 December 2020

The spectrum of growth abnormalities in children with 18q deletions

1 reference

12 December 2020

Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32899

1 reference

24 May 2018

PMC publication ID

5325704

1 reference

24 May 2018

PubMed publication ID

19533771

1 reference

24 May 2018