Literature DB >> 11389168

Two further cases of WHS with unbalanced de novo translocation t(4;8) characterised by CGH and FISH.

H Tönnies, M Stumm, L Neumann, M Volleth, U Grumpelt, J Müsebeck, G Annuss, H Neitzel.   

Abstract

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Year:  2001        PMID： 11389168      PMCID： PMC1734892          DOI： 10.1136/jmg.38.6.e21

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


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  7 in total

1.  A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

Authors:  Molly B Sheridan; Takema Kato; Chad Haldeman-Englert; G Reza Jalali; Jeff M Milunsky; Ying Zou; Ruediger Klaes; Georgio Gimelli; Stefania Gimelli; Robert M Gemmill; Harry A Drabkin; April M Hacker; Julia Brown; David Tomkins; Tamim H Shaikh; Hiroki Kurahashi; Elaine H Zackai; Beverly S Emanuel
Journal:  Am J Hum Genet       Date:  2010-07-30       Impact factor: 11.025

2.  Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome.

Authors:  Peter Hammond; Femke Hannes; Michael Suttie; Koen Devriendt; Joris Robert Vermeesch; Francesca Faravelli; Francesca Forzano; Susan Parekh; Steve Williams; Dominic McMullan; Sarah T South; John C Carey; Oliver Quarrell
Journal:  Eur J Hum Genet       Date:  2011-07-27       Impact factor: 4.246

3.  Familial Constitutional Rearrangement of Chromosomes 4 & 8: Phenotypically Normal Mother and Abnormal Progeny.

Authors:  Fulesh Kunwar; Sonal R Bakshi
Journal:  J Clin Diagn Res       Date:  2016-04-01

4.  Constitutional t(8;22)(q24;q11.2) that mimics the variant Burkitt-type translocation in Philadelphia chromosome-positive chronic myeloid leukemia.

Authors:  Shinichiro Kawamoto; Katsuya Yamamoto; Masanori Toyoda; Kimikazu Yakushijin; Hiroshi Matsuoka; Hironobu Minami
Journal:  Int J Hematol       Date:  2016-09-29       Impact factor: 2.490

5.  Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16.

Authors:  Marcella Zollino; Rosetta Lecce; Marina Murdolo; Daniela Orteschi; Giuseppe Marangi; Angelo Selicorni; Alina Midro; Giovanni Sorge; Giuseppe Zampino; Luigi Memo; Domenica Battaglia; Michael Petersen; Effie Pandelia; Yolanda Gyftodimou; Francesca Faravelli; Romano Tenconi; Livia Garavelli; Laura Mazzanti; Rita Fischetto; Pietro Cavalli; Salvatore Savasta; Laura Rodriguez; Giovanni Neri
Journal:  Hum Genet       Date:  2007-08-04       Impact factor: 4.132

6.  Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.

Authors:  Sabrina Giglio; Vladimiro Calvari; Giuliana Gregato; Giorgio Gimelli; Silvia Camanini; Roberto Giorda; Angela Ragusa; Silvana Guerneri; Angelo Selicorni; Marcus Stumm; Holger Tonnies; Mario Ventura; Marcella Zollino; Giovanni Neri; John Barber; Dagmar Wieczorek; Mariano Rocchi; Orsetta Zuffardi
Journal:  Am J Hum Genet       Date:  2002-06-10       Impact factor: 11.025

7.  Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Authors:  Alina T Midro; Marcella Zollino; Ewa Wiland; Barbara Panasiuk; Piotr S Iwanowski; Marina Murdolo; Robert Śmigiel; Maria Sąsiadek; Jacek Pilch; Maciej Kurpisz
Journal:  J Assist Reprod Genet       Date:  2015-12-04       Impact factor: 3.412
  7 in total

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