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1988 1
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Page 1
Genetic analysis of a congenital split-hand/split-foot malformation 4 pedigree.
Yang X, Lin X, Zhu Y, Luo J, Lin G. Yang X, et al. Mol Med Rep. 2018 Jun;17(6):7553-7558. doi: 10.3892/mmr.2018.8838. Epub 2018 Mar 29. Mol Med Rep. 2018. PMID: 29620206 Free PMC article.
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split-hand/split-foot malformation (SHFM) 4 family. The missense mutation c.728G>A (p.Arg243Gln) in the TP63 gene was revea …
In the present study whole-exome sequencing using the Complete Genomics platform was employed to scan a proband from a split-hand
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. ...
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformatio …
Split-Hand Malformation in a 4-Year-Old Child.
Meshram GG, Hura KS, Kaur N. Meshram GG, et al. Case Rep Pediatr. 2017;2017:6073619. doi: 10.1155/2017/6073619. Epub 2017 Aug 3. Case Rep Pediatr. 2017. PMID: 28840051 Free PMC article.
Split-hand deformity is one of the milder manifestations of a congenital disorder called split-hand/split-foot malformation. We present a case of a 4-year-old child with split-hand malformation in his left hand since
Split-hand deformity is one of the milder manifestations of a congenital disorder called split-hand/split
Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.
Suzuki K, Haraguchi R, Ogata T, Barbieri O, Alegria O, Vieux-Rochas M, Nakagata N, Ito M, Mills AA, Kurita T, Levi G, Yamada G. Suzuki K, et al. Eur J Hum Genet. 2008 Jan;16(1):36-44. doi: 10.1038/sj.ejhg.5201925. Epub 2007 Sep 19. Eur J Hum Genet. 2008. PMID: 17878916
In particular, limb malformations are often associated with urogenital developmental abnormalities, as the case for Hand-foot-genital syndrome displaying similar hypoplasia/agenesis of limbs and external genitalia. Split-hand/split-foot malformation (S …
In particular, limb malformations are often associated with urogenital developmental abnormalities, as the case for Hand-foot-genital syndro …
A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.
Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP. Nunes ME, et al. Hum Mol Genet. 1995 Nov;4(11):2165-70. doi: 10.1093/hmg/4.11.2165. Hum Mol Genet. 1995. PMID: 8589697
Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent central digital rays, deep median cleft, and syndactyly of remaining digits. ...We report a novel SHSF locus suggested by a stillborn infant wi …
Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent cen …
Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.
Ullah A, Gul A, Umair M, Irfanullah, Ahmad F, Aziz A, Wali A, Ahmad W. Ullah A, et al. Genet Mol Biol. 2018 Jan-Mar;41(1):1-8. doi: 10.1590/1678-4685-GMB-2016-0162. Epub 2018 Jan 22. Genet Mol Biol. 2018. PMID: 29384555 Free PMC article.
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. ...This study further expands the spectrum of the sequence variants reported in the WNT10B gene, which result in the split hand/foot malform
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. ...This study
A split hand-split foot (SHFM3) gene is located at 10q24-->25.
Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P. Gurrieri F, et al. Am J Med Genet. 1996 Apr 24;62(4):427-36. doi: 10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8723077
The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. ...A panel of families was tested with 17 marker loci mapped to the 10q24-->25 region. Maximum lod scores of 3.73, 4.33 and 4.33 at a …
The split hand-split foot (SHSF) malformation affects the central rays of the upper and lower limbs. ...A panel …
[Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly].
Dai L, Li NN, Deng Y, Mao M, Wang H, Zhu J. Dai L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):379-82. doi: 10.3760/cma.j.issn.1003-9406.2011.04.004. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011. PMID: 21811974 Chinese.
OBJECTIVE: To determine the causative gene mutation in a Chinese family with split hand/split foot malformation (SHFM) and explore the genotype-phenotype relationship. ...CONCLUSION: Patients in this pedigree are characterized by symmetrical split
OBJECTIVE: To determine the causative gene mutation in a Chinese family with split hand/split foot malformation …
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM). We performed p63 mutation analysis in a sample of 43 individuals an …
p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromi …
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.
Naveed M, Nath SK, Gaines M, Al-Ali MT, Al-Khaja N, Hutchings D, Golla J, Deutsch S, Bottani A, Antonarakis SE, Ratnamala U, Radhakrishna U. Naveed M, et al. Am J Hum Genet. 2007 Jan;80(1):105-11. doi: 10.1086/510724. Epub 2006 Nov 29. Am J Hum Genet. 2007. PMID: 17160898 Free PMC article.
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia with or without split-hand/split-foot deformity. ...Haplotype analysis with informative crossovers enabled mapp
Split-hand/foot malformation with long-bone deficiency (SHFLD) is a rare, severe limb deformity characterized by tibia aplasia
36 results