Bonaglia M, Bertuzzo S, Ciaschini A, Discepoli G, Castiglia L, Romaniello R
Mol Cytogenet. 2020; 13:22.
PMID: 32536973
PMC: 7291734.
DOI: 10.1186/s13039-020-00490-6.
Moon S, Kim S, Kim J, Park S, Do J, Lee D
Mol Cells. 2011; 31(4):315-26.
PMID: 21359678
PMC: 3933964.
DOI: 10.1007/s10059-011-0039-1.
Iannuzzi L, Di Berardino D
J Appl Genet. 2008; 49(4):357-66.
PMID: 19029683
DOI: 10.1007/BF03195634.
Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R
Hum Genet. 2005; 117(6):571-82.
PMID: 16041583
DOI: 10.1007/s00439-005-1324-x.
Kalscheuer V, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S
Am J Hum Genet. 2003; 72(6):1401-11.
PMID: 12736870
PMC: 1180301.
DOI: 10.1086/375538.
Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome.
Bonaglia M, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A
Am J Hum Genet. 2001; 69(2):261-8.
PMID: 11431708
PMC: 1235301.
DOI: 10.1086/321293.
Two cases of partial trisomy 8p and partial monosomy 21q in a family with a reciprocal translocation (8;21)(p21.1;q22.3).
Plomp A, Engelen J, Albrechts J, de Die-Smulders C, Hamers A
J Med Genet. 1998; 35(7):604-8.
PMID: 9678708
PMC: 1051374.
DOI: 10.1136/jmg.35.7.604.
Bromodeoxyuridine: a diagnostic tool in biology and medicine, Part III. Proliferation in normal, injured and diseased tissue, growth factors, differentiation, DNA replication sites and in situ hybridization.
Dolbeare F
Histochem J. 1996; 28(8):531-75.
PMID: 8894660
DOI: 10.1007/BF02331377.
Disclosure of five breakpoints in a complex chromosome rearrangement by microdissection and FISH.
Engelen J, Loots W, Albrechts J, Motoh P, Fryns J, Hamers A
J Med Genet. 1996; 33(7):562-6.
PMID: 8818941
PMC: 1050663.
DOI: 10.1136/jmg.33.7.562.
A novel mechanism for the origin of supernumerary marker chromosomes.
Maraschio P, Tupler R, Rossi E, Barbierato L, Uccellatore F, Rocchi M
Hum Genet. 1996; 97(3):382-6.
PMID: 8786088
DOI: 10.1007/BF02185778.
An analysis of Xq deletions.
Maraschio P, Tupler R, Barbierato L, Dainotti E, Larizza D, Bernardi F
Hum Genet. 1996; 97(3):375-81.
PMID: 8786087
DOI: 10.1007/BF02185777.
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.
Tupler R, Berardinelli A, Barbierato L, Frants R, Hewitt J, Lanzi G
J Med Genet. 1996; 33(5):366-70.
PMID: 8733044
PMC: 1050603.
DOI: 10.1136/jmg.33.5.366.
X inactivation analysis in a female with hypomelanosis of Ito associated with a balanced X;17 translocation: evidence for functional disomy of Xp.
Hatchwell E, Robinson D, Crolla J, Cockwell A
J Med Genet. 1996; 33(3):216-20.
PMID: 8728694
PMC: 1051870.
DOI: 10.1136/jmg.33.3.216.
The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications.
Floridia G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E
Am J Hum Genet. 1996; 58(4):785-96.
PMID: 8644743
PMC: 1914661.
Familial partial trisomy 8p without dysmorphic features and only mild mental retardation.
Engelen J, de Die-Smulders C, Sijstermans J, Meers L, Albrechts J, Hamers A
J Med Genet. 1995; 32(10):792-5.
PMID: 8558557
PMC: 1051702.
DOI: 10.1136/jmg.32.10.792.
Hypogonadism in a patient with balanced X/18 translocation and pituitary hormone deficiency.
Larizza D, Maraschio P, Maghnie M, Sampaolo P
Eur J Pediatr. 1993; 152(5):424-7.
PMID: 8319711
DOI: 10.1007/BF01955903.
Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.
Meindl A, HOSENFELD D, Bruckl W, Schuffenhauer S, Jenderny J, Bacskulin A
J Med Genet. 1993; 30(10):838-42.
PMID: 8230160
PMC: 1016566.
DOI: 10.1136/jmg.30.10.838.
Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq.
Bardoni B, Floridia G, Guioli S, Peverali G, Anichini C, Cisternino M
Hum Genet. 1993; 91(4):333-8.
PMID: 8099057
DOI: 10.1007/BF00217352.
Neural expression and chromosomal mapping of Neu differentiation factor to 8p12-p21.
Orr-Urtreger A, Trakhtenbrot L, Wen D, Rechavi G, Lonai P, Yarden Y
Proc Natl Acad Sci U S A. 1993; 90(5):1867-71.
PMID: 8095334
PMC: 45981.
DOI: 10.1073/pnas.90.5.1867.
Balanced autosomal translocations and ovarian dysgenesis.
Tupler R, Barbierato L, Larizza D, Sampaolo P, Piovella F, Maraschio P
Hum Genet. 1994; 94(2):171-6.
PMID: 8045563
DOI: 10.1007/BF00202864.