Split hand foot deformity 1
|
0.350 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Claw hand
|
0.170 |
Biomarker
|
disease |
HPO |
|
|
|
Aniridia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Syndactyly of fingers
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital absence of hand
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Absence of hand
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Absent finger
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Oligodactyly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Split hand foot deformity 1
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
Ectrodactyly
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
Claw hand
|
0.170 |
Biomarker
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
Claw hand
|
0.170 |
GeneticVariation
|
disease |
BEFREE |
Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22.
|
8023840 |
1994 |
Split-Hand/Foot Malformation
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
Split foot
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD.
|
8023840 |
1994 |
Split foot
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Based on these observations, an autosomal dominant form of ectrodactyly is assumed to reside in this region and the locus has been designated SHFD1 (split hand/split foot disorder).
|
7987314 |
1994 |
Congenital chromosomal disease
|
0.010 |
Biomarker
|
group |
BEFREE |
In the present study, marker loci were localized to the SHFD1 critical region through the analysis of somatic cell hybrids derived from individuals with SHSF and cytogenetic abnormalities involving the 7q21-q22 region.
|
7912888 |
1994 |
Split hand foot deformity 1
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.
|
7606850 |
1995 |
Ectrodactyly
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.
|
7606850 |
1995 |
Split-Hand/Foot Malformation
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
These results pinpoint the critical region for an ectrodactyly locus (SHFD1) on chromosome 7.
|
7606850 |
1995 |
Split hand foot deformity 1
|
0.350 |
Biomarker
|
disease |
BEFREE |
This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.
|
8782053 |
1996 |
Ectrodactyly
|
0.340 |
Biomarker
|
disease |
BEFREE |
This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.
|
8782053 |
1996 |
Split-Hand/Foot Malformation
|
0.080 |
Biomarker
|
disease |
BEFREE |
This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly.
|
8782053 |
1996 |
Split foot
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.
|
8733122 |
1996 |
Congenital Foot Deformity
|
0.030 |
AlteredExpression
|
disease |
BEFREE |
A deficiency in expression of Dss1, DLX5 and/or DLX6 during development may explain the SHFM phenotypes.
|
8733122 |
1996 |