(Q35616609)

English

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

scientific article published on 29 November 2006

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1. (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

susceptibility locus

1 reference

based on heuristic

inferred from title

Stilianos Antonarakis

10

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

author name string

Mohammed Naveed

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Swapan K Nath

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Mathew Gaines

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Mahmoud T Al-Ali

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Najib Al-Khaja

5

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

David Hutchings

6

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Jeffrey Golla

7

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Samuel Deutsch

8

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Armand Bottani

9

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Uppala Ratnamala

11

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Uppala Radhakrishna

12

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

0 references

publication date

29 November 2006

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

80

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

105-111

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Ignoring linkage disequilibrium among tightly linked markers induces false-positive evidence of linkage for affected sib pair analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Tibial agenesis with radial ray and cardiovascular defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

A study of possible deleterious effects of consanguinity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

On the inheritance of the split hand/split foot malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Isolated tibial hemimelia in sibs: an autosomal-recessive disorder?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Apparent Congenital Absence of the Tibia With Lethal Congenital Cardiac Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Bilateral tibial aplasia with lobster-claw hands. A rare genetic entity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Is there an autosomal recessive form of the split hand and split foot malformation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Aplasia of the tibia with bifurcation of the femur and ectrodactyly: evidence for an autosomal recessive type.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Bilateral split-hand with bilateral tibial aplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Partial trisomy of the long arm of human chromosome 1 as demostrated by in situ hybridization with 5S ribosomal RNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Congenital aplasia and dysplasia of the tibia with intact fibula. Classification and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Partial trisomy 1q due to tandem duplication

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

12 July 2018

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

25 September 2018

Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

25 September 2018

The impact of SNP density on fine-scale patterns of linkage disequilibrium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

25 September 2018

Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

25 September 2018

Caution on pedigree haplotype inference with software that assumes linkage equilibrium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

25 September 2018

Heterogeneity of the autosomal dominant split hand/split foot malformation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

25 September 2018

Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

15 November 2018

A first-generation linkage disequilibrium map of human chromosome 22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785322

15 November 2018

Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypohidrotic ectodermal dysplasia with tibial aplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A pair of sibs with tibial hemimelia born to phenotypically normal parents

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tibial hemimelia: report on 37 new cases, clinical and genetic considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tibial hemimelia-cleft lip/palate in a Brazilian child born to consanguineous parents

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital deficiency of the tibia: a report on 22 cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bilateral congenital split hand with tibial aplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tibial hemimelia-split hand/foot syndrome with rare anomalies

1 reference

https://pubmed.ncbi.nlm.nih.gov/17160898

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

ResearchGate publication ID

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