Literature DB >> 1262022

Letter: Does full monosomy 21 exist? A comment to the paper: A male infant with monosomy 21 by Y. Kaneko, T. Ikeuchi, M. Sasaki, Y. Satake and S. Kuwajima Humangenetik 29, 1-7 (1975).

A Schinzel.   

Abstract

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Year:  1976        PMID： 1262022     DOI： 10.1007/BF00569984

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  6 in total

1.  A male infant with monosomy 21.

Authors:  Y Kaneko; T Ikeuchi; M Sasaki; Y Stakae; S Kuwajima
Journal:  Humangenetik       Date:  1975-08-29

2.  Ring chromosome D (13) associated with multiple congenital malformations.

Authors:  E Niebuhr; J Ottosen
Journal:  Ann Genet       Date:  1973-09

3.  Chromosome studies in investigation of stillbirths and neonatal deaths.

Authors:  R Bauld; G R Sutherland; A D Bain
Journal:  Arch Dis Child       Date:  1974-10       Impact factor: 3.791

4.  21 monosomy in a retarded female infant.

Authors:  K H Halloran; W R Breg; M J Mahoney
Journal:  J Med Genet       Date:  1974-12       Impact factor: 6.318

5.  Monosomy of a "G" autosome in a 22-year-old female.

Authors:  W G Cooksley; A Firouz-Abadi; D C Wallace
Journal:  Med J Aust       Date:  1973-07-28       Impact factor: 7.738

6.  A 45,XX,21--child: attempt at a cytological and clinical interpretation of the karyotype.

Authors:  U Gripenberg; J Elfving; L Gripenberg
Journal:  J Med Genet       Date:  1972-03       Impact factor: 6.318
  6 in total
  10 in total

1.  Full monosomy 21: a clinically recognizable syndrome?

Authors:  J P Fryns; F D'Hondt; P Goddeeris; H van den Berghe
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

2.  Monosomy 21: a new case confirmed by in situ hybridization.

Authors:  M C Pellissier; N Philip; M A Voelckel-Baeteman; M G Mattei; J F Mattei
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

3.  Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

Authors:  M C Phelan; C C Morton; R E Stevenson; R E Tanzi; G D Stewart; P C Watkins; J F Gusella; J A Amos
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025

4.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

5.  Familial translocation t(10;21)(q22;q22).

Authors:  A Delicado; I L Pajares; P Vicente; F Hawkins
Journal:  Hum Genet       Date:  1979-09       Impact factor: 4.132

6.  Unbalanced 13q/21q translocation: a revised study of the case previously reported as 21-monosomy.

Authors:  T Ikeuchi; I Kondo; M Sasaki; Y Kaneko; S Kodama
Journal:  Hum Genet       Date:  1976-08-30       Impact factor: 4.132

7.  Deletion of the App-Runx1 region in mice models human partial monosomy 21.

Authors:  Thomas Arbogast; Matthieu Raveau; Claire Chevalier; Valérie Nalesso; Doulaye Dembele; Hugues Jacobs; Olivia Wendling; Michel Roux; Arnaud Duchon; Yann Herault
Journal:  Dis Model Mech       Date:  2015-04-16       Impact factor: 5.758

8.  Monosomy 21 seen in live born is unlikely to represent true monosomy 21: a case report and review of the literature.

Authors:  Trent Burgess; Lilian Downie; Mark D Pertile; David Francis; Melissa Glass; Sara Nouri; Rosalynn Pszczola
Journal:  Case Rep Genet       Date:  2014-02-04

9.  Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.

Authors:  Meng Su; Paul J Benke; Guney Bademci; Filiz Basak Cengiz; Xiaomei Ouyang; Jinghong Peng; Carmen E Casas; Mustafa Tekin; Yao-Shan Fan
Journal:  Mol Cytogenet       Date:  2018-08-01       Impact factor: 2.009

10.  Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.

Authors:  Jakob Schuy; Jesper Eisfeldt; Maria Pettersson; Niloofar Shahrokhshahi; Mohsen Moslem; Daniel Nilsson; Niklas Dahl; Mansoureh Shahsavani; Anna Falk; Anna Lindstrand
Journal:  Front Genet       Date:  2022-02-04       Impact factor: 4.599
  10 in total

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