1 |
A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.
56
61
|
Babbs C...Wilkie AO
|
17569090 |
2007 |
2 |
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.
61
56
|
Naveed M...Radhakrishna U
|
17160898 |
2007 |
3 |
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.
56
|
Naveed M...Radhakrishna U
|
16688753 |
2006 |
4 |
Bilateral tibial agenesis with ectrodactyly (OMIM 119100): further evidence for autosomal recessive inheritance.
56
|
Witters I...Fryns JP
|
11754046 |
2001 |
5 |
Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?
56
|
Majewski E...Meinecke P
|
8723107 |
1996 |
6 |
On the inheritance of the split hand/split foot malformation.
56
|
Zlotogora J
|
7802032 |
1994 |
7 |
Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1.
56
|
Marinoni JC...Schwartz C
|
7987314 |
1994 |
8 |
Bilateral split-hand with bilateral tibial aplasia.
56
|
Sener RN...Sener F
|
2748235 |
1989 |
9 |
Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation.
56
|
Hoyme HE...Robinow M
|
3655984 |
1987 |
10 |
Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance.
56
|
Majewski F...Goecke T
|
4007857 |
1985 |
11 |
The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency.
61
|
Kucinska-Chahwan A...Roszkowski T
|
31307755 |
2019 |
12 |
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
61
|
Paththinige CS...Dissanayake VHW
|
31200655 |
2019 |
13 |
17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype.
61
|
Shen Y...Zhang X
|
29970136 |
2018 |
14 |
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
61
|
Fusco C...Merla G
|
28496997 |
2017 |
15 |
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
61
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Al Kaissi A...Grill F
|
24838992 |
2014 |
16 |
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
61
|
Baquero-Montoya C...Pie J
|
24874887 |
2014 |
17 |
Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.
61
|
Petit F...Escande F
|
23790188 |
2014 |
18 |
Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis.
61
|
Petit F...Mathieu-Dramard M
|
23202277 |
2013 |
19 |
17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD).
61
|
Armour CM...Graham GE
|
21629300 |
2011 |