(Q41487071)

1 October 2017

1 reference

title

Molecular basis of congenital hypopigmentary disorders in humans: a review (English)

1 reference

1 October 2017

0 references

R E Boissy

1

1 reference

PubMed ID

9170158

1 October 2017

J J Nordlund

series ordinal

2

1 reference

1 October 2017

1 February 1997

1 reference

Pigment Cell & Melanoma Research

1 October 2017

1 reference

1 October 2017

10

1 reference

1 October 2017

1-2

1 reference

1 October 2017

12-24

1 reference

Identification of the homologous beige and Chediak-Higashi syndrome genes

1 October 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

The genetics of pigmentation: from fancy genes to complex traits

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

P0 is an early marker of the schwann cell lineage in chickens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

The proto-oncogene c-kit encoding a transmembrane tyrosine kinase receptor maps to the mouse W locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Skeletal abnormalities in the Apert syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Human cytogenetics. A current overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Deletion of the c-kit protooncogene in the human developmental defect piebald trait

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

The dominant-white spotting (W) locus of the mouse encodes the c-kit proto-oncogene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Basic fibroblast growth factor from human keratinocytes is a natural mitogen for melanocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

The hematopoietic growth factor KL is encoded by the Sl locus and is the ligand of the c-kit receptor, the gene product of the W locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

c-kit protein, a transmembrane kinase: identification in tissues and characterization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

The ins and outs of fibroblast growth factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Endothelins--from receptors to medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Insight into the microphthalmia gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Fibroblast-growth-factor receptor mutations in human skeletal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

An analysis of migratory behavior of avian cephalic neural crest cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Identification of the murine beige gene by YAC complementation and positional cloning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Identical reactivity of monoclonal antibodies HNK-1 and NC-1: conservation in vertebrates on cells derived from the neural primordium and on some leukocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

Stem cell factor is encoded at the SI locus of the mouse and is the ligand for the c-kit tyrosine kinase receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

A high-resolution linkage map of the lethal spotting locus: a mouse model for Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1600-0749.1997.TB00461.X

10.1111/J.1600-0749.1997.TB00461.X

21 January 2018

Identifiers

DOI

1 reference

1 October 2017

1 reference

PubMed ID

9170158