(Q28237330)

7

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author name string

E Rao

1

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B Weiss

2

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M Fukami

3

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B Niesler

5

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A Mertz

6

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G Binder

8

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S Kirsch

9

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M Winkelmann

10

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G Nordsiek

11

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U Heinrich

12

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M H Breuning

13

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M B Ranke

14

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A Rosenthal

15

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T Ogata

16

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G A Rappold

https://scigraph.springernature.com/pub.10.1038/ng0597-54

17

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language of work or name

English

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publication date

May 1997

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published in

Nature Genetics

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volume

16

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page(s)

54-63

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issue

1

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exact match

0 references

cites work

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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene

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Cloning and characterization of four murine homeobox genes

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An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

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

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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

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Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

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A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

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Homologous ribosomal protein genes on the human X and Y chromosomes: escape from X inactivation and possible implications for Turner syndrome

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

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Fibroblast-growth-factor receptor mutations in human skeletal disorders

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Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.

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Characterization of a YAC contig spanning the pseudoautosomal region

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Dwarf locus mutants lacking three pituitary cell types result from mutations in the POU-domain gene pit-1.

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Mammalian sex determination: thumbs down for zinc finger?

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X-chromosome inactivation may explain the difference in viability of XO humans and mice

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PROSITE: a dictionary of sites and patterns in proteins

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Increased exon-trapping efficiency through modifications to the pSPL3 splicing vector.

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Human Growth Hormone: Complementary DNA Cloning and Expression in Bacteria

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Molecular basis for familial isolated growth hormone deficiency

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Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation

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Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s).

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Homeotic transformations of murine vertebrae and concomitant alteration of Hox codes induced by retinoic acid

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Limb mesenchymal cells inhibited from undergoing cartilage differentiation by a tumor promoting phorbol ester maintain expression of the homeobox-containing gene Msx1 and fail to exhibit gap junctional communication

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Up-regulation of HOXC6, HOXD1, and HOXD8 homeobox gene expression in human neuroblastoma cells following chemical induction of differentiation

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A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation

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Identification of a ten-amino acid proline-rich SH3 binding site

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Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.

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The Y specific growth gene(s): how does it promote stature?

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Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

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