(Q34389995)

1 August 2017

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22 (English)

1 reference

patella aplasia/hypoplasia

1 August 2017

1 reference

1

1 reference

1 August 2017

7

1 reference

ORCID Public Data File 2021

1 August 2017

1 reference

author name string

Sanchez O

2

1 reference

1 August 2017

Torrente I

3

1 reference

1 August 2017

De Luca A

4

1 reference

1 August 2017

Capon F

5

1 reference

1 August 2017

Novelli G

6

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 August 1999

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

65

1 reference

1 August 2017

2

1 reference

1 August 2017

441-447

1 reference

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Mutation analysis of LMX1B gene in nail-patella syndrome patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

6 July 2018

DeLIMiting development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Fine mapping of the nail-patella syndrome locus at 9q34

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Genomic analysis of a new mammalian distal-less gene: Dlx7

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Identification of mammalian noggin and its expression in the adult nervous system

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

The 1993-94 Généthon human genetic linkage map

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

The Coffin-Siris syndrome. A report of four cases and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Easy calculations of lod scores and genetic risks on small computers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Familial pericentric inversion of chromosome 8.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

A second-generation linkage map of the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

The human PAX6 gene is mutated in two patients with aniridia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Familial aplasia or hypoplasia of the patella

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Radiological features in Trisomy 8

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

The "small patella" syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Congenital coxa vara, patella aplasia and tarsal synostosis: a new inherited syndrome

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377943

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency

27 October 2018

1 reference

12 December 2020

Hereditary onycho-osteodysplasia (Nail-Patella syndrome). A report of nine kindreds

1 reference

12 December 2020

Arthrogryposis syndrome (Kuskokwim disease) in the Eskimo.

1 reference

12 December 2020

The unusual skeletal findings of the Kuskokwim syndrome

1 reference

12 December 2020

Familial absence of the patella

1 reference

12 December 2020

Trisomy 8 mosaicism syndrome

1 reference

12 December 2020

A familial syndrome of aniridia and absence of the patella

1 reference

12 December 2020

Congenital absence of the patellae

1 reference

COCI

https://opencitations.net/index/coci/api/v1/citations/10.1016/S0022-3476(49)80344-1

21 August 2022

Identifiers

DOI

10.1086/302505

1 reference

1 August 2017

1 reference

1 August 2017

1 reference