(Q52176345)

26 April 2018

title

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. (English)

1 reference

26 April 2018

author name string

Diaz GA

1

1 reference

26 April 2018

Gelb BD

2

1 reference

26 April 2018

Ali F

3

1 reference

26 April 2018

Sakati N

4

1 reference

26 April 2018

Sanjad S

5

1 reference

26 April 2018

Meyer BF

6

1 reference

26 April 2018

Kambouris M

7

1 reference

26 April 2018

publication date

1 July 1999

1 reference

26 April 2018

American Journal of Medical Genetics Part A

published in

1 reference

26 April 2018

volume

85

1 reference

26 April 2018

issue

1

1 reference

26 April 2018

page(s)

48-52

1 reference

26 April 2018

Evidence for linkage of spelling disability to chromosome 15

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Kenny syndrome: description of additional abnormalities and molecular studies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Ocular Findings in Kenny's Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

A comprehensive genetic map of the human genome based on 5,264 microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Assignment of the human parathyroid hormone gene to chromosome 11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Short stature, mental retardation, and hypoparathyroidism: a new syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Assignment of the human PTH2 receptor gene (PTHR2) to chromosome 2q33 by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Kenny-Caffey syndrome and microorchidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

Novel mutation in the FGFR2 gene at the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome type 2 case

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819990702%2985%3A1%3C48%3A%3AAID-AJMG9%3E3.0.CO%3B2-Y

10.1002/(SICI)1096-8628(19990702)85:1<48::AID-AJMG9>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

1 reference

26 April 2018

1 reference

26 April 2018