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Abbreviation : SHFM
Long Form : Split hand/foot malformation
No. Year Title Co-occurring Abbreviation
2022 Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3. ---
2021 Classifications of split hand foot malformation (SHFM) should include transverse deficiencies: Why Maisels was correct. ---
2021 Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. ---
2021 Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family. SNP, WGL-MPS
2020 A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family. ---
2020 A Novel Missense Variant of TP63 Heterozygously Present in Split-Hand/Foot Malformation. WES
2020 Nonsyndromic Split-Hand/Foot Malformation: Recent Classification. ---
2020 Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation. WES, WGS
2020 The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature. ---
10  2020 [Clinical feature and pathogenic analysis of a fetus with split hand-foot malformation]. CNVs, FISH, NGS
11  2020 [Genetic analysis of a pedigree affected with congenital split-hand/foot malformation]. CNVs
12  2019 A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations. ---
13  2019 Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2). CNVs, WES
14  2019 Duplication of 10q24 locus: broadening the clinical and radiological spectrum. ---
15  2019 Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family. CLSS, WES
16  2019 Split hand/foot malformation associated with 20p12.1 deletion: A case report. FGFR
17  2019 Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. SHFLD
18  2019 WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. ---
19  2019 [Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis]. ---
20  2018 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. CGH, qPCR, SHFLD
21  2018 Bilateral split hand foot malformation in siblings: Case series. ---
22  2018 Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes. ---
23  2018 Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree. ---
24  2018 Genetic regulatory pathways of split-hand/foot malformation. AER
25  2018 Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation. ---
26  2018 Split hand-foot malformation and a novel WNT10B mutation. ---
27  2018 [Identification of pathogenic mutation in a Chinese pedigree affected with split hand/split foot malformation]. SNP
28  2017 A Novel Heterozygous Intragenic Sequence Variant in DLX6 Probably Underlies First Case of Autosomal Dominant Split-Hand/Foot Malformation Type 1. DLX6
29  2017 Bhlha9 regulates apical ectodermal ridge formation during limb development. AER, SHFLD
30  2017 Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. CNVs, NYS, qPCR, SNP
31  2017 First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation. ---
32  2017 Microduplications of 10q24 Detected in Two Chinese Patients with Split-hand/foot Malformation Type 3. ---
33  2017 Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation. qPCR
34  2017 [Genetic analysis of three families affected with split-hand/split-foot malformation]. FISH
35  2016 Split Hand/Foot Malformation Associated with 7q21.3 Microdeletion: A Case Report. ---
36  2016 Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development. ---
37  2016 Split-hand/feet malformation: A rare syndrome. ---
38  2015 7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance. ---
39  2015 A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. ADULT, DBD, EEC, EEC
40  2015 Identification of Critical Region Responsible for Split Hand/Foot Malformation Type 3 (SHFM3) Phenotype through Systematic Review of Literature and Mapping of Breakpoints Using Microarray Data. SHFM3, SNP
41  2014 Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. ---
42  2014 Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations. CHH
43  2014 Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. ---
44  2014 DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations. AER, EEC
45  2014 Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation. Dlx5
46  2014 Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families. ---
47  2014 Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. GWC, SHFLD
48  2014 Lobster claw deformity. EEC
49  2014 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. ---
50  2014 Split-hand/feet malformation in three tamilian families and review of the reports from India. AD, AR
51  2014 [Genetic analysis and prenatal diagnosis of two Chinese families with split hand foot malformation]. array-CGH
52  2014 [Identification of a pathogenic microduplication in a Chinese split-hand/split-foot malformation family]. qPCR
53  2013 Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. ---
54  2013 Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation. ---
55  2013 Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families. ---
56  2013 Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. ---
57  2013 Split-hand/foot malformation - molecular cause and implications in genetic counseling. ---
58  2012 Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway. RHS
59  2012 Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. ---
60  2011 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. ---
61  2011 A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation. ---
62  2011 Differential altered stability and transcriptional activity of DeltaNp63 mutants in distinct ectodermal dysplasias. AEC, EEC, SAM
63  2011 Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. CGH
64  2011 Familial ectrodactyly syndrome in a nigerian child: a case report. EEC
65  2011 Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation. ---
66  2011 Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization. SHFM1
67  2011 The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. ---
68  2011 [Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly]. PCR
69  2010 Acro-cardio-facial syndrome. ACFS, CHD
70  2010 Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. ChIP
71  2010 Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. ---
72  2010 [Prevalence of congenital split hand/split foot malformation in Chinese population]. ---
73  2009 Central ray deficiency with extensive syndactyly: a dilemma for classification. ---
74  2009 Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. CGH
75  2009 Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity? ---
76  2008 A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3. ---
77  2008 Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation. ---
78  2008 P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. AER, HJMD
79  2008 Positive regulation of steroidogenic acute regulatory protein gene expression through the interaction between Dlx and GATA-4 for testicular steroidogenesis. StAR
80  2008 The association of split hand foot malformation (SHFM) and congenital heart defects. CHDs
81  2007 A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. SHFLD
82  2007 A novel mutation of p63 in a Chinese family with inherited syndactyly and adactylism. EEC
83  2007 Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4. SHFM1, SHFM4, UP
84  2007 EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? LMS
85  2007 [Genetic analysis of a Chinese pedigree with split hand and foot malformation]. DAC
86  2006 Clinical and epidemiological findings in patients with central ray deficiency: split hand foot malformation (SHFM) in Manitoba, Canada. EEC, IFSSH, LUL
87  2006 Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. PFGE, qPCR
88  2006 Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. EEC
89  2006 Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias. AEC, EDs, EEC, LMS, SAM
90  2006 Triphalangeal thumb in association with split hand/foot: a phenotypic marker for SHFM3? TPT
91  2006 [A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family]. PCR
92  2005 Discrepancies in upper and lower limb patterning in split hand foot malformation. TPT
93  2005 Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. ---
94  2005 Split hand foot malformation (SHFM). ---
95  2005 Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. ---
96  2004 Altered sumoylation of p63alpha contributes to the split-hand/foot malformation phenotype. SUMO-1
97  2004 Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome. CLS
98  2004 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. ---
99  2004 Molecular genetic characterization of a Korean split hand/split foot malformation (SHFM). LOH
100  2003 A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. SHFM3