Literature DB >> 6124729

Chromosomal abnormalities in mendelian disorders.

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Year:  1982        PMID: 6124729

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


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  5 in total

1.  Sperm chromosome analysis of two males heterozygous for a t(2;17)(q35;p13) and t(3;8)(p13;p21) reciprocal translocation.

Authors:  J Jenderny
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  A dominantly inherited syndrome (microcephaly, short stature, peculiar facies, mental retardation) associated with two balanced rearrangements involving chromosomes 2;7 and 5;20.

Authors:  R Vivarelli; O Zuffardi; P Maraschio; C Anichini; R Scarinci
Journal:  Hum Genet       Date:  1988-08       Impact factor: 4.132

Review 3.  Impact of rearrangements on function and position of chromosomes in the interphase nucleus and on human genetic disorders.

Authors:  M B Qumsiyeh
Journal:  Chromosome Res       Date:  1995-12       Impact factor: 5.239

4.  Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus.

Authors:  O Zuffardi; M Fraccaro
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  Reciprocal translocations: a trap for cytogenetists?

Authors:  Roberto Ciccone; Roberto Giorda; Giuliana Gregato; Renzo Guerrini; Sabrina Giglio; Romeo Carrozzo; Maria Clara Bonaglia; Emanuela Priolo; Carmelo Laganà; Romano Tenconi; Mariano Rocchi; Tiziano Pramparo; Orsetta Zuffardi; Elena Rossi
Journal:  Hum Genet       Date:  2005-07-23       Impact factor: 4.132

  5 in total

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