|1|7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance. (26075025)
Delgado S.... Velinov M.
|2|Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. (24459211)
Lango Allen H.... Ellard S.
|3|Identification of the deleted in split hand/split foot 1 protein as a novel biomarker for human cervical cancer. (23024267)
Ma Y.Y.... Wei S.J.
|4|A 0.7a88Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation. (23169702)
Velinov M.... Iqbal M.A.
|5|A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation. (21700002)
Bens S.... Caliebe A.
|6|Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). (21078256)
Al Kaissi A.... Grill F.
|7|Historical note: an analysis of a 17th century illustration of a child with split hand/split foot malformation. (21455467)
Ohry A.... Frydman M.
|8|Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. (17878916)
Suzuki K.... Yamada G.
|9|Split-hand/split-foot malformation associated with maternal valproate consumption. (16010085)
Sukumaran S.... Thomas S.V.
|10|Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes. (15617554)
Faiyaz-Ul-Haque M.... Cohn D.H.
|11|One family investigation and pathogeny research on ectrodactyly, absence of radius side part palm and split foot malformation]. (15476176)
Hu Z.J.... Zhang A.Y.
|12|Pathogenesis of split-hand/split-foot malformation. (12668597)
Duijf P.H.... Brunner H.G.
|13|Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? (12401986)
Giltay J.C.... Lock M.T.
|14|Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. (11168022)
Tackels-Horne D.... Schwartz C.E.
|15|Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3. (11557033)
Grimm T.... ToftgAYrd R.
|16|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. (11424924)
Haberlandt E.... Janecke A.R.
|17|p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. (11462173)
van Bokhoven H.... Brunner H.G.
|18|Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (10839977)
Ianakiev P.... Tsipouras P.
|19|SEM1, a homologue of the split hand/split foot malformation candidate gene Dss1, regulates exocytosis and pseudohyphal differentiation in yeast. (9927667)
JAontti J.... KerAonen S.
|20|Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. (10330351)
Ozen R.S.... Richard C.W.
|21|Fluorescent in situ mapping of the murine deleted in split hand/split foot 1 (dss1) gene to chromosome 6. (9271682)
Crackower M.A.... Tsui L.C.
|22|A split hand-split foot (SHFM3) gene is located at 10q24-->25. (8723077)
Gurrieri F.... Tsipouras P.
|23|A second case of microcephaly, microphthalmia, ectrodactyly (split-foot) and prognathism (MMEP). (8867664)
Suthers G.... Morris L.
|24|Genetics of split hand and split foot. A case study. (8699344)
|25|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)
Crackower M.A.... Tsui L.-C.
|26|Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. (8782053)
Ignatius J.... Kere J.
|27|Genes for split hand/split foot and laterality defects on 7q22.1 and Xq24-q27.1. (8160746)
Genuardi M.... Neri G.
|28|Non-Mendelian transmission in a human developmental disorder: split hand/split foot. (7942849)
Jarvik G.P.... Evans J.P.
|29|Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel-Losonci syndrome? (8074153)
Genuardi M.... Tozzi C.
|30|Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. (7912888)
Palmer S.E.... Evans J.P.
|31|Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. (8023840)
Scherer S.W.... Patton M.A.
|32|Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1. (7987314)
Marinoni J.C.... Schwartz C.
|33|Mapping of the gene for X-chromosomal split-hand/split-foot anomaly to Xq26-q26.1. (8454282)
Faiyaz ul Haque M.... Propping P.
|34|Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes. (8411061)
Lacombe D.... Battin J.
|35|Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. (8287191)
Viljoen D.L.... Smart R.
|36|Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. (1895319)
Roberts S.H.... Meredith A.L.
|37|Triphalangeal thumb and split foot in the same family. (2098049)
Le Marec B.... Treguier C.
|38|Is there an autosomal recessive form of the split hand and split foot malformation? (2918544)
Zlotogora J.... Nubani N.
|39|Split hand/split foot syndrome with atresia of nasolacrimal ducts and buphthalmos. (2630451)
Singh D.... Beri R.S.
|40|Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. (3233778)
|41|X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred. (3817811)
Ahmad M.... Flatz G.
|42|Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. (4007857)
Majewski F.... Goecke T.
|43|Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus. (3978843)
Pilarski R.T.... Lebovitz R.M.
|44|The split-hand and split-foot anomaly in a central African Negro population. (6507501)
Viljoen D.L.... Beighton P.
|45|Split--hand and split--foot deformity report of a family with 16 affected individuals in three generations. (7373184)
Sirinavin C.... Vidhayakom S.
|46|Split-hand and split-foot deformity inherited as an autosomal recessive trait. (1248167)
Verma I.C.... Mehta S.
|47|Congenital split foot (lobster claw) and triphalangeal thumb. (5578221)
GOPAL RAO Y.
|49|Heredofamilial cleft foot deformity (lobster-claw foot or split foot). (20271741)
MEYERDING H.W.... UPSHAW J.E.
|50|Two Brothers, members of a family with "lobster-claw" (split-hand and split-foot deformity), one showing the Skeletal Deformity and the other Aniridia. (19990206)
Savin L.H.... Sorsby A.