Search filters

List of works by Samarth Bhatt

A case of childhood T cell acute lymphoblastic leukemia with a complex t(9;9) and homozygous deletion of CDKN2A gene associated with a Philadelphia-positive minor subclone.

scientific article published on 6 October 2012

A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification

scientific article published on 29 June 2013

A complex karyotype masked a cryptic variant t(8;21)(q22;q22) in a child with acute myeloid leukemia

scientific article published on 10 June 2011

A high complex karyotype involving eleven chromosomes including three novel chromosomal aberrations and monoallelic loss of TP53 in case of follicular lymphoma transformed into B-cell lymphoblastic leukemia

scientific article published on 20 December 2016

A rare cryptic and complex rearrangement leading to MLL-MLLT10 gene fusion masked by del(10)(p12) in a child with acute monoblastic leukemia (AML-M5).

scientific article published on 18 January 2012

A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes

scientific article

A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.

scientific article published on 06 December 2013

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder

scientific article (publication date: October 2009)

An unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype

scientific article

Aplastic anemia and Klinefelter syndrome

scientific article published on 01 October 2004

Application of BAC-probes to visualize copy number variants (CNVs)

scientific article published on 01 January 2015

BNDF methylation in mothers and newborns is associated with maternal exposure to war trauma.

scientific article

Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm

scientific article published on 3 October 2007

Childhood B-cell progenitor acute lymphoblastic leukemia presenting a three-way t(11;12;21)(q14;p13;q22) with a RUNX1 gene signal on chromosome 11

scientific article published on 05 January 2012

Children's Relationship With Their Pet Dogs and Genotype Predict Child-Pet Interaction in an Experimental Setting

scientific article published on 05 September 2018

Chromosome distribution in human sperm - a 3D multicolor banding-study

scientific article published on 14 November 2008

Chromosomes in a genome-wise order: evidence for metaphase architecture.

scientific article published on 27 April 2016

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

scientific article published on 14 May 2016

Effect of Pet Dogs on Children's Perceived Stress and Cortisol Stress Response

scientific article published on 28 July 2016

Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements

scientific article published on December 2011

Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations

scientific article

Heteromorphic variants of chromosome 9

scientific article published on April 1, 2013

Human Ring Chromosomes - New Insights for their Clinical Significance

scientific article published on June 2013

Human ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?

scientific article published on 18 October 2012

Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish

scientific article

Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis

scientific article published on 6 November 2013

Microdeletion and microduplication syndromes

scientific article published on 06 March 2012

Molecular cytogenetic evaluation of the efficacy of photodynamic therapy by indocyanine green in breast adenocarcinoma MCF-7 cells.

scientific article

Molecular cytogenetics studies reveal unexpected chromosomal inversion as variant of t(12;21)(p13;q22) in child with B-cell precursor acute lymphoblastic leukemia

scientific article published on 29 September 2011

Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon

scientific article published on 29 April 2008

Prenatal Maternal Stress Predicts Methylation of Genes Regulating the Hypothalamic-Pituitary-Adrenocortical System in Mothers and Newborns in the Democratic Republic of Congo

scientific article published on January 2016

Putting a finger on the problem: Finger stick blood draw and immunization at the well-child exam elicit a cortisol response to stress among one-year-old children

scientific article published on 22 April 2018

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

scientific article

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

scientific article published on 2 November 2011