1 |
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
62
57
5
|
Sowinska-Seidler A...Jamsheer A
|
25196357 |
2014 |
2 |
Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
62
57
5
|
Wang X...Liu Q
|
24496061 |
2014 |
3 |
Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
62
57
|
Rattanasopha S...Shotelersuk V
|
25332435 |
2014 |
4 |
A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.
62
57
|
Velinov M...Iqbal MA
|
23169702 |
2012 |
5 |
Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
62
57
|
Shamseldin HE...Alkuraya FS
|
22121204 |
2012 |
6 |
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss.
62
57
|
Saitsu H...Matsumoto N
|
19449426 |
2009 |
7 |
Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes.
62
57
|
Bernardini L...Dallapiccola B
|
18080328 |
2008 |
8 |
Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients.
62
57
|
Elliott AM...Evans JA
|
16688749 |
2006 |
9 |
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia.
62
57
|
Wieland I...Wieacker PF
|
15121782 |
2004 |
10 |
Pathogenesis of split-hand/split-foot malformation.
62
57
|
Duijf PH...Brunner HG
|
12668597 |
2003 |
11 |
Mouse model of split hand/foot malformation type I.
62
57
|
Merlo GR...Levi G
|
12112878 |
2002 |
12 |
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21.
62
57
|
Tackels-Horne D...Schwartz CE
|
11168022 |
2001 |
13 |
Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.
62
57
|
Ignatius J...Kere J
|
8782053 |
1996 |
14 |
Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac.
62
57
|
Johnson KR...Davisson MT
|
8666395 |
1995 |
15 |
Ectrodactyly and proximal/intermediate interstitial deletion 7q.
62
57
|
McElveen C...Lacassie Y
|
7747769 |
1995 |
16 |
Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1.
62
57
|
Marinoni JC...Schwartz CE
|
7606850 |
1995 |
17 |
Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.
62
57
|
Scherer SW...Little S
|
7987313 |
1994 |
18 |
Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation.
62
57
|
Palmer SE...Evans JP
|
7912888 |
1994 |
19 |
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.
62
57
|
Scherer SW...Patton MA
|
8023840 |
1994 |
20 |
Inverted insertion of chromosome 7q and ectrodactyly.
62
57
|
Naritomi K...Hirayama K
|
8322806 |
1993 |
21 |
Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2.
62
57
|
Sharland M...Hill L
|
1877619 |
1991 |
22 |
Ectro-amelia syndrome associated with an interstitial deletion of 7q.
62
57
|
Morey MA...Higgins RR
|
2301476 |
1990 |
23 |
Interstitial long-arm deletion of chromosome 7 and ectrodactyly.
62
57
|
Tajara EH...Gusson AC
|
2929660 |
1989 |
24 |
The split-hand and split-foot anomaly in a central African Negro population.
62
57
|
Viljoen DL...Beighton P
|
6507501 |
1984 |
25 |
Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types.
62
57
|
Bujdoso G...Lenz W
|
7389732 |
1980 |
26 |
A problem for genetic counselling - split hand deformity.
62
57
|
Emery AE
|
891014 |
1977 |
27 |
Dominant ectrodactyly and possible germinal mosaicism.
62
57
|
David TJ
|
5079103 |
1972 |
28 |
A recessive form of ectrodactyly, and its implications in genetic counseling.
62
57
|
Freire-Maia A
|
5094721 |
1971 |
29 |
Ectrodactyly--evidence in favour of a disturbed segregation in the offspring of affected males.
62
57
|
STEVENSON AC...JENNINGS LM
|
13834546 |
1960 |
30 |
Two pedigrees of ectrodactyly.
62
57
|
MacKENZIE HJ...PENROSE LS
|
24541402 |
1951 |
31 |
Discrepancies in upper and lower limb patterning in split hand foot malformation.
57
|
Elliott AM...Evans JA
|
16207208 |
2005 |
32 |
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
57
|
Haberlandt E...Janecke AR
|
11424924 |
2001 |
33 |
Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome. Two affected halfsisters and normal father.
57
|
De Smet L...Fryns JP
|
11693788 |
2001 |
34 |
Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse.
57
|
Crackower MA...Tsui LC
|
9733575 |
1998 |
35 |
Bilateral split hand/foot malformation and inv(7)(p22q21.3).
57
|
Cobben JM...Castedo S
|
7616545 |
1995 |
36 |
Non-Mendelian transmission in a human developmental disorder: split hand/split foot.
57
|
Jarvik GP...Evans JP
|
7942849 |
1994 |
37 |
On the inheritance of the split hand/split foot malformation.
57
|
Zlotogora J
|
7802032 |
1994 |
38 |
The genetics of human limb development.
57
|
Roberts DJ...Tabin C
|
7912883 |
1994 |
39 |
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.
57
|
Genuardi M...Neri G
|
8279479 |
1993 |
40 |
Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24)
57
|
Koiffmann CP...Coates MV
|
8192752 |
1993 |
41 |
Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3.
57
|
Roberts SH...Meredith AL
|
1895319 |
1991 |
42 |
Why is Mendelian segregation so exact?
57
|
Crow JF
|
1909864 |
1991 |
43 |
[Interstitial deletion of the long arm of chromosome 7 and its clinical correlations].
57
|
Del Porto G...Di Fusco C
|
6680429 |
1983 |
44 |
Another case of split-foot mutation in two sibs.
57
|
Ray AK
|
4320415 |
1970 |
45 |
[Split hand and foot with familial occurrence].
57
|
NEUGEBAUER H
|
14479171 |
1962 |
46 |
[Delayed mutation in man; a critical observation on the work of Ch. Auerbachs (1956)].
57
|
VOGEL F
|
13509525 |
1958 |
47 |
A possible case of delayed mutation in man.
57
|
AUERBACH C
|
13314396 |
1956 |
48 |
Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.
53
62
|
Clements SE...McGrath JA
|
19903181 |
2010 |
49 |
A 19-year follow-up of a patient with type 3 ectrodactyly-ectodermal dysplasia-clefting syndrome who developed non-Hodgkin lymphoma.
53
62
|
Balci S...Kandemir B
|
19716498 |
2009 |
50 |
A new mutation in TP63 is associated with age-related pathology.
53
62
|
Holder-Espinasse M...Manouvrier-Hanu S
|
17609671 |
2007 |