(Q84244604)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

main subject

amelogenesis imperfecta

1 reference

Grace M Hobson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Carolyn W Gibson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Melissa Aragon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Zhi-an Yuan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Angelique Davis-Williams

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Linda Banser

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Jennifer Kirkham

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Alan H Brook

8

1 reference

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2 February 2020

publication date

1 August 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

2 February 2020

published in

1 reference

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2 February 2020

volume

149A

1 reference

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2 February 2020

issue

8

1 reference

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2 February 2020

page(s)

1698-1705

1 reference

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Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS)

2 February 2020

cites work

1 reference

12 December 2020

A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

1 reference

12 December 2020

An amelogenin gene defect associated with human X-linked amelogenesis imperfecta

1 reference

12 December 2020

Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

1 reference

12 December 2020

Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects

1 reference

12 December 2020

The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study

1 reference

12 December 2020

Rehardening of Softened Enamel Surfaces of Human Teeth by Solutions of Calcium Phosphates

1 reference

12 December 2020

Studies on the ultrastructure of dental enamel. IV. The mineralization of normal human enamel

1 reference

12 December 2020

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

1 reference

12 December 2020

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination

1 reference

12 December 2020

Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers.

1 reference

12 December 2020

The use of animal models to explore amelogenin variants in amelogenesis imperfecta

1 reference

12 December 2020

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

1 reference

12 December 2020

The molecular etiologies and associated phenotypes of amelogenesis imperfecta

1 reference

12 December 2020

1 reference

12 December 2020

Ectopic expression of dentin sialoprotein during amelogenesis hardens bulk enamel.

1 reference

12 December 2020

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

1 reference

12 December 2020

HCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?

1 reference

12 December 2020

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

1 reference

12 December 2020

Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA

1 reference

12 December 2020

X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations

1 reference

12 December 2020

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

1 reference

12 December 2020

Acquired skewing of Lyonization remains stable for a prolonged period in healthy blood donors

1 reference

12 December 2020

A new non-linear normalization method for reducing variability in DNA microarray experiments

1 reference

12 December 2020

Linear and whorled nevoid hypermelanosis with bilateral giant cerebral aneurysms

1 reference

12 December 2020

Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome

1 reference

12 December 2020

Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?

1 reference

12 December 2020

Relationship of phenotype and genotype in X-linked amelogenesis imperfecta

1 reference

12 December 2020

Electron optic microanalysis of two gene products in enamel of females heterozygous for X-linked hypomaturation amelogenesis imperfecta

1 reference

12 December 2020

Quantitative analysis of cell turnover in the enamel organ of the rat incisor. Evidence for ameloblast death immediately after enamel matrix secretion

1 reference

12 December 2020

Properties of dissociatively extracted fetal tooth matrix proteins. I. Principal molecular species in developing bovine enamel

1 reference

12 December 2020

Longitudinal microradiography: a non-destructive automated quantitative method to follow mineral changes in mineralised tissue slices

1 reference

12 December 2020

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

1 reference

12 December 2020

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

1 reference

12 December 2020

Molecular and cytogenetic analysis of a familial microdeletion of Xq.

1 reference

12 December 2020

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

1 reference

12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

12 December 2020

Molecular basis and consequences of a deletion in the amelogenin gene, analyzed by capture PCR

1 reference

12 December 2020

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome

1 reference

12 December 2020

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

1 reference

12 December 2020

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.32968

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19610109%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

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2 February 2020

PubMed publication ID

19610109

1 reference