(Q35870519)

10 August 2017

1 reference

title

Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes (English)

1 reference

10 August 2017

Taibjee SM

1

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10 August 2017

Bennett DC

series ordinal

2

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10 August 2017

Moss C

series ordinal

3

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10 August 2017

language of work or name

English

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publication date

1 August 2004

1 reference

British Journal of Dermatology

10 August 2017

published in

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10 August 2017

volume

151

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10 August 2017

issue

2

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10 August 2017

page(s)

269-282

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Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium

10 August 2017

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Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

21 January 2018

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Transposable elements and the lines of Blaschko: a new perspective

21 January 2018

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21 January 2018

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Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

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Deletion of the SLUG (SNAI2) gene results in human piebaldism

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21 January 2018

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21 January 2018

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Scatter factor/hepatocyte growth factor as a regulator of skeletal muscle and neural crest development

21 January 2018

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The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS.

21 January 2018

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Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice

21 January 2018

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Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

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Molecular cloning and characterization of WNT3A and WNT14 clustered in human chromosome 1q42 region

21 January 2018

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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans

21 January 2018

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Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

21 January 2018

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Insight into the microphthalmia gene

21 January 2018

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

21 January 2018

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Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)

21 January 2018

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A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

21 January 2018

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A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f/f) mice

21 January 2018

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The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking

21 January 2018

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Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

21 January 2018

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Genetics of dark skin in mice

21 January 2018

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Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice

21 January 2018

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The zinc-finger protein slug causes desmosome dissociation, an initial and necessary step for growth factor-induced epithelial-mesenchymal transition

21 January 2018

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Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

21 January 2018

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Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

21 January 2018

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Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice

21 January 2018

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Mutation of melanosome protein RAB38 in chocolate mice

21 January 2018

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A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.

21 January 2018

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The mouse silver locus encodes a single transcript truncated by the silver mutation.

21 January 2018

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The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation

21 January 2018

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Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters

21 January 2018

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A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 January 2018

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cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter

21 January 2018

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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

21 January 2018

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The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene

21 January 2018

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The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes

21 January 2018

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Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans

21 January 2018

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Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex

21 January 2018

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Comparative maps of human 19p13.3 and mouse chromosome 10 allow identification of sequences at evolutionary breakpoints

21 January 2018

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Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

21 January 2018

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Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

21 January 2018

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The mouse mahogany locus encodes a transmembrane form of human attractin

21 January 2018

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Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Mutations in Sox18 underlie cardiovascular and hair follicle defects in ragged mice

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Growth retardation and cysteine deficiency in gamma-glutamyl transpeptidase-deficient mice

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Mosaic trisomy 7 in a patient with pigmentary abnormalities

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

[Hypomelanosis Ito in translocation trisomy 9/mosaicism (46,XX/46,XX,t(9;9)(p24;p24)). Spontaneous remission in childhood]

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Hypomelanosis of Ito: a description, not a diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Functional Xp disomy and hypomelanosis of Ito.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2004.06057.X

Mosaic trisomy 22: a case presentation and literature review of trisomy 22 phenotypes

21 January 2018

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10.1111/J.1365-2133.2004.06057.X

21 January 2018

Identifiers

DOI

1 reference

10 August 2017

1 reference