Literature DB >> 8411066

Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

N Tommerup1.   

Abstract

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Mesh：

Year:  1993        PMID： 8411066      PMCID： PMC1016528          DOI： 10.1136/jmg.30.9.713

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  254 in total

1.  A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Authors:  D A Driscoll; M L Budarf; B S Emanuel
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

2.  [Partial deletion of the long arm of chromosome 17. Presentation of a clinical case].

Authors:  A Giannotti; A Alessandri; A Reale; M C Digilio; M G Valorani
Journal:  Minerva Pediatr       Date:  1992 Jan-Feb       Impact factor: 1.312

3.  Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma.

Authors:  D Stambolian; B Sellinger; D Derrington; R Sargent; B S Emanuel
Journal:  Am J Med Genet       Date:  1992-04-01

4.  Isolation of a candidate gene for choroideremia.

Authors:  D E Merry; P A Jänne; J E Landers; R A Lewis; R L Nussbaum
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

5.  No evidence of mutations in four candidate genes for male sex determination/differentiation in sex-reversed XY females with campomelic dysplasia.

Authors:  C Ebensperger; R J Jäger; U Lattermann; F Dagna Bricarelli; J Keutel; J Lindsten; H Rehder; U Müller; U Wolf
Journal:  Ann Genet       Date:  1991

6.  Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.

Authors:  Z Tümer; N Tommerup; T Tønnesen; J Kreuder; I W Craig; N Horn
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

7.  Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Authors:  L Pentao; R A Lewis; D H Ledbetter; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

8.  Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion.

Authors:  J P Giacalone; U Francke
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

9.  An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations.

Authors:  I Cross; J Delhanty; P Chapman; L V Bowles; D Griffin; J Wolstenholme; M Bradburn; J Brown; C Wood; A Gunn
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

Review 10.  Phenotypic, cytogenetic, and molecular studies of three patients with constitutional deletions of chromosome 5 in the region of the gene for familial adenomatous polyposis.

Authors:  V Lindgren; C R Bryke; T Ozcelik; T L Yang-Feng; U Francke
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025
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  25 in total

1.  Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.

Authors:  J Wirth; H G Nothwang; S van der Maarel; C Menzel; G Borck; I Lopez-Pajares; K Brøndum-Nielsen; N Tommerup; M Bugge; H H Ropers; T Haaf
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

2.  Large clinically consequential imbalances detected at the breakpoints of apparently balanced and inherited chromosome rearrangements.

Authors:  Sarah T South; Lyndsey Rector; Emily Aston; Leslie Rowe; Samuel P Yang
Journal:  J Mol Diagn       Date:  2010-07-01       Impact factor: 5.568

3.  Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

Authors:  P Gustavsson; G Skeppner; B Johansson; T Berg; L Gordon; A Kreuger; N Dahl
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

4.  Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.

Authors:  Birgitte Bertelsen; Nanette Mol Debes; Lena E Hjermind; Liselotte Skov; Karen Brøndum-Nielsen; Zeynep Tümer
Journal:  Neurogenetics       Date:  2013-08-29       Impact factor: 2.660

5.  Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

Authors:  Julia Baptista; Catherine Mercer; Elena Prigmore; Susan M Gribble; Nigel P Carter; Viv Maloney; N Simon Thomas; Patricia A Jacobs; John A Crolla
Journal:  Am J Hum Genet       Date:  2008-03-27       Impact factor: 11.025

6.  Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Authors:  Christina Halgren; Nete M Nielsen; Lusine Nazaryan-Petersen; Asli Silahtaroglu; Ryan L Collins; Chelsea Lowther; Susanne Kjaergaard; Morten Frisch; Maria Kirchhoff; Karen Brøndum-Nielsen; Allan Lind-Thomsen; Yuan Mang; Zahra El-Schich; Claire A Boring; Mana M Mehrjouy; Peter K A Jensen; Christina Fagerberg; Lotte N Krogh; Jan Hansen; Thue Bryndorf; Claus Hansen; Michael E Talkowski; Mads Bak; Niels Tommerup; Iben Bache
Journal:  Am J Hum Genet       Date:  2018-05-24       Impact factor: 11.025

7.  Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.

Authors:  J J Cox; S T Holden; S Dee; J I Burbridge; F L Raymond
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

8.  De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.

Authors:  Ying Yue; Baerbel Grossmann; Susan E Holder; Thomas Haaf
Journal:  Hum Genet       Date:  2005-04-15       Impact factor: 4.132

Review 9.  A gene map of congenital malformations.

Authors:  A O Wilkie; J S Amberger; V A McKusick
Journal:  J Med Genet       Date:  1994-07       Impact factor: 6.318

10.  Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5).

Authors:  N Tommerup; C A Brandt; S Pedersen; L Bolund; J Kamper
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318
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