Literature DB >> 9106547

Possible narrowed assignment of the loci of monosomy 21-associated microcephaly and intrauterine growth retardation to a 1.2-Mb segment at 21q22.2.

N Matsumoto, H Ohashi, M Tsukahara, K C Kim, E Soeda, N Niikawa.   

Abstract

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Year:  1997        PMID： 9106547      PMCID： PMC1712454     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region.

Authors:  K Osoegawa; R Susukida; S Okano; J Kudoh; S Minoshima; N Shimizu; P J de Jong; J Groet; J Ives; H Lehrach; D Nizetic; E Soeda
Journal:  Genomics       Date:  1996-03-15       Impact factor: 5.736

2.  The Drosophila single-minded gene encodes a helix-loop-helix protein that acts as a master regulator of CNS midline development.

Authors:  J R Nambu; J O Lewis; K A Wharton; S T Crews
Journal:  Cell       Date:  1991-12-20       Impact factor: 41.582

3.  minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila.

Authors:  F Tejedor; X R Zhu; E Kaltenbach; A Ackermann; A Baumann; I Canal; M Heisenberg; K F Fischbach; O Pongs
Journal:  Neuron       Date:  1995-02       Impact factor: 17.173

4.  Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21.

Authors:  M J McGinniss; H H Kazazian; G Stetten; M B Petersen; H Boman; E Engel; F Greenberg; J M Hertz; A Johnson; Z Laca
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

5.  No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in "mirror" duplications of chromosome 21.

Authors:  C Pangalos; D Théophile; P M Sinet; A Marks; D Stamboulieh-Abazis; Z Chettouh; M Prieur; C Verellen; M O Rethoré; J Lejeune
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

6.  A case of 21q--syndrome with normal SOD-1 activity.

Authors:  Y Yamamoto; N Ogasawara; A Gotoh; H Komiya; H Nakai; Y Kuroki
Journal:  Hum Genet       Date:  1979-05-10       Impact factor: 4.132
  6 in total
  13 in total

1.  Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.

Authors:  R Oegema; A de Klein; A J Verkerk; R Schot; B Dumee; H Douben; B Eussen; L Dubbel; P J Poddighe; I van der Laar; W B Dobyns; P J van der Spek; M H Lequin; I F M de Coo; M-C Y de Wit; M W Wessels; G M S Mancini
Journal:  Mol Syndromol       Date:  2010-09-14

2.  Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients.

Authors:  Karol Dowjat; Tatyana Adayev; Wojciech Kaczmarski; Jerzy Wegiel; Yu-Wen Hwang
Journal:  J Neuropathol Exp Neurol       Date:  2012-12       Impact factor: 3.685

3.  Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down's syndrome patient: review of thirty-one similar dicentrics.

Authors:  Horacio Rivera; Ana I Vásquez-Velásquez
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

4.  Conflicting results of prenatal FISH with different probes for Down's Syndrome critical regions associated with mosaicism for a de novo del(21)(q22) characterised by molecular karyotyping: Case report.

Authors:  Christel Eckmann-Scholz; Stefan Gesk; Inga Nagel; Andrea Haake; Susanne Bens; Simone Heidemann; Monika Kautza; Christian Timke; Reiner Siebert; Almuth Caliebe
Journal:  Mol Cytogenet       Date:  2010-09-05       Impact factor: 2.009

5.  Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Authors:  Rikke S Møller; Sabine Kübart; Maria Hoeltzenbein; Babett Heye; Ida Vogel; Christian P Hansen; Corinna Menzel; Reinhard Ullmann; Niels Tommerup; Hans-Hilger Ropers; Zeynep Tümer; Vera M Kalscheuer
Journal:  Am J Hum Genet       Date:  2008-04-10       Impact factor: 11.025

6.  Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

Authors:  Vassiliki Fotaki; Mara Dierssen; Soledad Alcántara; Salvador Martínez; Eulàlia Martí; Caty Casas; Joana Visa; Eduardo Soriano; Xavier Estivill; Maria L Arbonés
Journal:  Mol Cell Biol       Date:  2002-09       Impact factor: 4.272

7.  Ocular Phenotype Associated with DYRK1A Variants.

Authors:  Cécile Méjécase; Christopher M Way; Nicholas Owen; Mariya Moosajee
Journal:  Genes (Basel)       Date:  2021-02-05       Impact factor: 4.096

Review 8.  Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

Authors:  Stephanie M Luco; Daniela Pohl; Erick Sell; Justin D Wagner; David A Dyment; Hussein Daoud
Journal:  BMC Med Genet       Date:  2016-02-27       Impact factor: 2.103

9.  One-carbon cycle alterations induced by Dyrk1a dosage.

Authors:  Jean-Maurice Delabar; Alizée Latour; Christophe Noll; Marjorie Renon; Sacha Salameh; Jean-Louis Paul; Mariona Arbones; Jamileh Movassat; Nathalie Janel
Journal:  Mol Genet Metab Rep       Date:  2014-11-21

10.  Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.

Authors:  Rachel K Earl; Tychele N Turner; Heather C Mefford; Caitlin M Hudac; Jennifer Gerdts; Evan E Eichler; Raphael A Bernier
Journal:  Mol Autism       Date:  2017-10-05       Impact factor: 7.509
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