A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11

Liborio Stuppia, Valentina Gatta, Giuseppe Calabrese, +8

Human Genetics

CytogeneticsGenetic DisorderHematologyPathologyMale Infertility +5

A woman with an apparent non‐mosaic 45,X delivered a 46,X,der(X) liveborn female

Giandomenico Palka, Giuseppe Calabrese, Liborio Stuppia, +4

Clinical Genetics

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy

Liborio Stuppia, Valentina Gatta, Anna Rita Gaspari, +4

European Journal of Human Genetics

Down SyndromeMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology +7

Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

G Calabrese, Liborio Stuppia, Elisena Morizio, +8

European Journal of Human Genetics

Duane GeneMendelian DisorderGenetic DisorderGeneticsPathology +5

Assignment<footref rid="foot01"><sup>1</sup></footref> of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization

G Calabrese, Carlo Crescenzi, Elisena Morizio, +3

Cytogenetic and Genome Research

CytogeneticsGeneticsLinkage AnalysisPathologyMolecular Genetics +20

Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis

Paolo Guanciali‐Franchi, Giuseppe Calabrese, Elisena Morizio, +12

American Journal of Medical Genetics Part A

Inositide-specific phospholipase c β1 gene deletion in the progression of myelodysplastic syndrome to acute myeloid leukemia

Vincenza Rita Lo Vasco, G Calabrese, Lucia Manzoli, +6

Leukemia

Hematological MalignancyMyelodysplastic SyndromeHematologyImmunologyPathology +7

Isolation of osteogenic progenitors from human amniotic fluid using a single step culture protocol

Ivana Antonucci, Irene Iezzi, Elisena Morizio, +9

BMC Biotechnology

A New Case of Pure Partial 7q Duplication

Melissa Alfonsi, Chiara Palka, Elisena Morizio, +7

Cytogenetic and Genome Research

CytogeneticsGeneticsCombinatorial DesignEducationData Deduplication +15

p53 loss and point mutations are associated with suppression of apoptosis and progression of CML into myeloid blastic crisis

Liborio Stuppia, Giuseppe Calabrese, Rita Peila, +4

Cancer Genetics and Cytogenetics

Hematological MalignancyPoint MutationsP53 LossMedicineApoptosis +7