A Search Service for Abbreviation / Long Form

■ Related PubMed/MEDLINE Info.

[Related PubMed/MEDLINE]
Total Number of Papers: 66
[Display Entries]
[Entries Per Page]
 per page
Page Control
Page: of
Abbreviation : sSMCs
Long Form : small supernumerary marker chromosomes
No. Year Title Co-occurring Abbreviation
2022 Meiotic Segregation of an Isodicentric Derived from Chromosome 15 in Sperm of a Patient with Mosaic Karyotype: Case Report and Review of the Literature. ---
2022 Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes. ---
2022 The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes. aCGH, FISH, OGM
2021 Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report. ---
2021 Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing. aCGH, FISH, NGS
2021 Small supernumerary marker chromosomes derived from chromosome 14 and/or 22. ad 2
2021 Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC). CMA, sSMC, WES
2021 [Cytogenetic and molecular genetic analysis of three cases with small supernumerary marker chromosomes]. CMA, FISH
2020 Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes. NGS
10  2020 Molecular cytogenetic characterization of small supernumerary marker 15 in infertile male: A case report. CMA, FISH
11  2020 Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array. SNP, UPD
12  2020 Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report. PCR
13  2020 Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer. ---
14  2020 Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder. ASD, CNV-seq
15  2019 A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature. ---
16  2019 Analysis of molecular cytogenetic features and PGT-SR for two infertile patients with small supernumerary marker chromosomes. MicroSeq, NGS, PGT-SR
17  2019 Clinical Observation of a Child with Prenatally Diagnosed De Novo Partial Trisomy of Chromosome 20. ---
18  2019 Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review. ---
19  2019 Molecular cytogenetic characterization of a mosaic small supernumerary marker chromosome derived from chromosome Y in an azoospermic male: A case report. AZF, CMA
20  2019 Molecular cytogenetic identification of small supernumerary marker chromosomes using chromosome microarray analysis. CMA, pCNVs, VOUS
21  2019 Mosaicism: Reason for Normal Phenotypes in Carriers of Small Supernumerary Marker Chromosomes With Known Adverse Outcome. A Systematic Review. ---
22  2019 Retrospectively investigating the 12-year experience of prenatal diagnosis of small supernumerary marker chromosomes through array comparative genomic hybridization. CGH, CNV
23  2019 The First Case of a Small Supernumerary Marker Chromosome 18 in a Klinefelter Fetus: A Case Report. FISH, QF-PCR
24  2019 [Prenatal diagnosis and clinical analysis of two fetuses with Cat-eye syndrome]. CES, FISH, SNP-array
25  2018 A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature. ---
26  2018 Impaired Spermatogenesis due to Small Supernumerary Marker Chromosomes: The Reason for Infertility Is Only Reliably Ascertainable by Cytogenetics. ---
27  2018 Low-pass single-chromosome sequencing of human small supernumerary marker chromosomes (sSMCs) and Apodemus B chromosomes. ---
28  2018 Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature. CNV, FISH, PWACR
29  2018 Small Supernumerary Marker Chromosome May Provide Information on Dosage-insensitive Pericentric Regions in Human. ECN, Mbps, PeCR-FISH
30  2018 [Origin and morphological features of small supernumerary marker chromosomes in Turner syndrome]. FISH
31  2016 A New Case of a Complex Small Supernumerary Marker Chromosome: A Der(9)t(7;9)(p22;q22) due to a Maternal Balanced Rearrangement. ---
32  2016 Identification of small marker chromosomes using microarray comparative genomic hybridization and multicolor fluorescent in situ hybridization. FISH, mFISH
33  2016 Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors. nAChRs
34  2016 [Study of two cases of prenatally detected small supernumerary marker chromosomes]. FISH, SNP-array
35  2015 Decreased XY recombination and disturbed meiotic prophase I progression in an infertile 48, XYY, +sSMC man. ---
36  2015 Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome. ---
37  2015 The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype. ---
38  2014 Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications. ---
39  2014 Mitotic stability of small supernumerary marker chromosomes depends on their shape and telomeres - a long term in vitro study. ---
40  2014 Subtelomeric multiplex ligation-dependent probe amplification as a supplement for rapid prenatal detection of fetal chromosomal aberrations. MLPA
41  2013 A new small supernumerary marker chromosome involving 14pter → q12 in a child with severe neurodevelopmental retardation: case report and literature review. ---
42  2013 A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. AGS
43  2013 Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes. BAC, FISH, MLPA
44  2013 Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes. CB
45  2013 Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study. array-CGH, CI, SNP
46  2013 Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations. FISH
47  2013 Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord. ---
48  2013 [Analysis of small supernumerary marker chromosome 15q11 in four infertile males]. FISH, MLPA, SNP-array
49  2013 [Identification of human small supernumerary marker chromosomes and discussion of its research value]. FISH
50  2012 De novo origin of multiple small supernumerary marker chromosomes (sSMCs) in a child with intellectual disability and dysmorphic features. FISH, SKY
51  2012 Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory. MCA
52  2011 A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. sSRCs
53  2011 Characterization of 23 small supernumerary marker chromosomes detected at pre-natal diagnosis: The value of fluorescence in situ hybridization. FISH
54  2011 Characterizing small supernumerary marker chromosomes with combination of multiple techniques. CMA, FISH, qPCR
55  2011 Identification and characterization of a complex pure mosaic of small supernumerary marker chromosomes involving 11p11.12 → q12.1 and 19p12 → q12 regions in a child featuring multiple congenital anomalies. ---
56  2010 Small supernumerary marker chromosomes 1 with a normal phenotype. ---
57  2009 A case of an infertile male with a small supernumerary marker chromosome negative for M-FISH and containing only heterochromatin. ---
58  2009 Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male. FISH
59  2009 dup(19)(q12q13.2): array-based genotype-phenotype correlation of a new possibly obesity-related syndrome. Mb
60  2009 Handling small supernumerary marker chromosomes in prenatal diagnostics. ---
61  2009 Small supernumerary marker chromosomes (sSMCs): a spotlight on some nomenclature problems. ---
62  2007 A case report of a meiotic segregation study on a small supernumerary marker chromosome. sSMC, UPD
63  2007 Identification of a "cryptic mosaicism" involving at least four different small supernumerary marker chromosomes derived from chromosome 9 in a woman without reproductive success. FISH
64  2007 Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. BAC, M-FISH, MCB
65  2006 The identification of small supernumerary marker chromosomes; the experiences of 15,792 fetal karyotyping from Turkey. FISH
66  2005 Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: cooperative study of 19 Italian laboratories. ---