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Abbreviation : SSCA
Long Form : single-strand conformation analysis
No. Year Title Co-occurring Abbreviation
2020 Comprehensive study for BRCA1 and BRCA2 entire coding regions in breast cancer. HDA
2013 A multisite blinded study for the detection of BRAF mutations in formalin-fixed, paraffin-embedded malignant melanoma. CAST-PCR, HRM
2010 De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features. aCGH, FISH, MLPA, RTT
2009 Is there any correlation between the elevated plasma levels and gene variations of factor VIII in Turkish thrombosis patients? FVIII, STA
2009 Lack of association between endothelin-1 gene variants and myocardial infarction. DHPLC, ET-1, MI
2009 Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. COL4A4, KC
2008 Notch1 is a frequent mutational target in chemically induced lymphoma in mouse. PEST, T-ALL
2008 The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. DNA, FSGS, TBMN
2007 Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)? COL4A5, TBMN
10  2007 NRAMP1 3' untranslated region polymorphisms are not associated with natural resistance to Brucella abortus in cattle. 3'UTR
11  2006 Association between ulcerative growth and hypoxia inducible factor-1alpha polymorphisms in colorectal cancer patients. CRC, HIF-1alpha, IHC, RFLP, VHL
12  2006 Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population. ---
13  2005 Frequency of bovine Nramp1 (Slc11a1) alleles in Holstein and Zebu breeds. 3'UTR
14  2005 Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations. AIS, AR, GSF, RT-PCR
15  2004 Methylation-sensitive single-strand conformation analysis: a rapid method to screen for and analyze DNA methylation. MS-SSCA
16  2003 Human nuclear transcription factor gene CREM: genomic organization, mutation screening, and association analysis in panic disorder. CREM, HPA, ICER
17  2003 Intraspecies genotype variability of the microsporidian parasite Encephalitozoon hellem. ITS, PTP
18  2003 PTEN/MMAC1 mutations correlate inversely with an altered p53 tumor suppressor gene in gynecologic tumors. ---
19  2003 X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. XLHED
20  2002 Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs). NTD, NTDs, SBA
21  2002 Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. FIHP, HPT, MEN1
22  2002 Metabotropic glutamate receptor 3 (GRM3) gene variation is not associated with schizophrenia or bipolar affective disorder in the German population. GRM3
23  2002 Testing for genetic associations with the PAX gene family in a spina bifida population. NTDs, SB, TDT
24  2002 The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. AGA, HR, TDT
25  2001 A screen for mutations in human homologues of mice exencephaly genes Tfap2alpha and Msx2 in patients with neural tube defects. NTD
26  2001 BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. DBCG, PTT
27  2001 Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome. WAS
28  2001 Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. ---
29  2001 Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. adCORD, adRP, LCA, LMDIED
30  2000 Genetic analysis of Raf1, Mdm2, c-Myc, Cdc25a and Cdc25b proto-oncogenes in 2',3'-dideoxycytidine- and 1,3-butadiene-induced lymphomas in B6C3F1 mice. BD, ddC, ENU
31  2000 Identification of three polymorphisms in the dystrophin gene. PCR
32  2000 The human dopamine transporter gene: the 5'-flanking region reveals five diallelic polymorphic sites in a Caucasian population sample. bp, hDAT
33  2000 Thirteen novel mutations of the replicated region of PKD1 in an Asian population. ADPKD, PCR
34  1999 Cystic fibrosis mutations in Israeli Arab patients. ---
35  1999 Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region. NTD
36  1999 Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). ---
37  1999 Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online. BMD, DMD, HD
38  1998 CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND). 3'UTR, HA, MND
39  1998 Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients. GAP, TSC
40  1998 Mutation analysis of the c-mos proto-oncogene in human ovarian teratomas. HA
41  1998 Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. FIHP, MEN1
42  1997 A mutation analysis on GYPC, the gene encoding the Gerbich blood group antigens. DGGE, Ge
43  1997 An exonic polymorphism (381A/G) in the choroideremia gene. ---
44  1997 Cystic fibrosis mutation frequencies in upstate New York. CFTR, PCR
45  1997 Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA). CFLPA, CFLPA-SS, CFTR, FGFR3, HA, PCR, PKD1
46  1997 Dideoxy fingerprinting assay for BRCA1 mutation analysis. DDF
47  1996 Detection of polymorphism in the Trypanosoma cruzi TcP2 beta gene family by single strand conformational analysis (SSCA). STS
48  1996 Hb Utrecht [alpha 2 129(H12)Leu-->Pro], a new unstable alpha 2-chain variant associated with a mild alpha-thalassaemic phenotype. DGGE
49  1996 Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. ---
50  1996 Rapid detection of sequence polymorphisms in the human mitochondrial DNA control region by polymerase chain reaction and single-strand conformation analysis in mutation detection enhancement gels. MDE, mt
51  1996 Systematic screening for mutations in the 5'-regulatory region of the human dopamine D1 receptor (DRD1) gene in patients with schizophrenia and bipolar affective disorder. ---
52  1996 The role of androgen receptor gene mutations in male breast carcinoma. ---
53  1995 Absence of mutations in the Mn superoxide dismutase or catalase genes in familial amyotrophic lateral sclerosis. FALS
54  1995 Identical mutations of the p53 tumor suppressor gene in the gliomatous and the sarcomatous components of gliosarcomas suggest a common origin from glial cells. ---
55  1995 Identification of variable length polyadenosine tract at the dystrophin locus. ---
56  1995 p53 mutations in benign breast tissue. PCR
57  1994 Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications. PCR
58  1994 Identification of genetic variation in the human serotonin 1D beta receptor gene. ---
59  1994 Single-strand conformation analysis (SSCA) of the dopamine D1 receptor gene (DRD1) reveals no significant mutation in patients with schizophrenia and manic depression. ---
60  1993 DNA polymorphisms in the 3' untranslated region of genes on human chromosome 21. ---
61  1993 Failure to find linkage between schizophrenia and genetic markers on chromosome 21. APP
62  1993 Identification of p53 gene mutations in gastrointestinal and pancreatic carcinoids by nonradioisotopic SSCA. ---
63  1992 Screening for mutations in the open reading frame and promoter of the beta-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val-->Ile. AD, APP