Literature DB >> 1829580

Protocols to establish genotype-phenotype correlations in Down syndrome.

C J Epstein1, J R Korenberg, G Annerén, S E Antonarakis, S Aymé, E Courchesne, L B Epstein, A Fowler, Y Groner, J L Huret.   

Abstract

Mesh：

Year:  1991        PMID： 1829580      PMCID： PMC1683195     

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


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  36 in total

1.  Classification: purposes, principles, progress, prospects.

Authors:  R R Sokal
Journal:  Science       Date:  1974-09-27       Impact factor: 47.728

2.  Neuropsychological correlates of information-processing by children with Down syndrome.

Authors:  A J Lincoln; E Courchesne; B A Kilman; R Galambos
Journal:  Am J Ment Defic       Date:  1985-01

3.  Characteristics of children with phonologic disorders of unknown origin.

Authors:  L D Shriberg; J Kwiatkowski; S Best; J Hengst; B Terselic-Weber
Journal:  J Speech Hear Disord       Date:  1986-05

4.  The ITPA and Down's syndrome: an exploratory study.

Authors:  D Bilovsky; J Share
Journal:  Am J Ment Defic       Date:  1965-07

5.  Simultaneous fluorescent staining of R bands and specific heterochromatic regions (DA-DAPI bands) in human chromosomes.

Authors:  D Schweizer
Journal:  Cytogenet Cell Genet       Date:  1980

6.  Down's syndrome: is there a decreased population of neurons?

Authors:  M H Ross; A M Galaburda; T L Kemper
Journal:  Neurology       Date:  1984-07       Impact factor: 9.910

7.  Formal analysis of dysmorphism: objective methods of syndrome definition.

Authors:  M Preus; S Aymé
Journal:  Clin Genet       Date:  1983-01       Impact factor: 4.438

8.  Trisomy 9 (pter----q1 to q3): the phenotype as an objective aid to karyotypic interpretation.

Authors:  M Preus; A Schinzel; S Aymé; K Kaijser
Journal:  Clin Genet       Date:  1984-07       Impact factor: 4.438

9.  Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome.

Authors:  K E Wisniewski; H M Wisniewski; G Y Wen
Journal:  Ann Neurol       Date:  1985-03       Impact factor: 10.422

10.  Auditory P300 response in the assessment of Alzheimer's disease in Down's syndrome: a 2-year follow-up study.

Authors:  W J Muir; I Squire; D H Blackwood; M D Speight; D M St Clair; C Oliver; P Dickens
Journal:  J Ment Defic Res       Date:  1988-12
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  29 in total

1.  A contiguous 3-Mb sequence-ready map in the S3-MX region on 21q22.2 based on high- throughput nonisotopic library screenings.

Authors:  T Hildmann; X Kong; J O'Brien; L Riesselman; H M Christensen; E Dagand; H Lehrach; M L Yaspo
Journal:  Genome Res       Date:  1999-04       Impact factor: 9.043

2.  Abnormal expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in hippocampus, frontal cortex, and substantia nigra of Ts65Dn mouse: a model of Down syndrome.

Authors:  Chie Harashima; David M Jacobowitz; Jassir Witta; Rosemary C Borke; Tyler K Best; Richard J Siarey; Zygmunt Galdzicki
Journal:  J Comp Neurol       Date:  2006-02-10       Impact factor: 3.215

3.  Isolation, characterization, and regional mapping of microclones from a human chromosome 21 microdissection library.

Authors:  J Yu; J Hartz; Y Xu; R M Gemmill; J R Korenberg; D Patterson; F T Kao
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

4.  Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.

Authors:  Robert Lyle; Frédérique Béna; Sarantis Gagos; Corinne Gehrig; Gipsy Lopez; Albert Schinzel; James Lespinasse; Armand Bottani; Sophie Dahoun; Laurence Taine; Martine Doco-Fenzy; Pascale Cornillet-Lefèbvre; Anna Pelet; Stanislas Lyonnet; Annick Toutain; Laurence Colleaux; Jürgen Horst; Ingo Kennerknecht; Nobuaki Wakamatsu; Maria Descartes; Judy C Franklin; Lina Florentin-Arar; Sophia Kitsiou; Emilie Aït Yahya-Graison; Maher Costantine; Pierre-Marie Sinet; Jean M Delabar; Stylianos E Antonarakis
Journal:  Eur J Hum Genet       Date:  2008-11-12       Impact factor: 4.246

5.  Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer's Disease: The Role of APP.

Authors:  Eric Doran; David Keator; Elizabeth Head; Michael J Phelan; Ron Kim; Minodora Totoiu; Jorge R Barrio; Gary W Small; Steven G Potkin; Ira T Lott
Journal:  J Alzheimers Dis       Date:  2017       Impact factor: 4.472

6.  Methods for genetic linkage analysis using trisomies.

Authors:  E Feingold; N E Lamb; S L Sherman
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

7.  Down syndrome detection based on facial features using a geometric descriptor.

Authors:  Jadisha Yarif Ramírez Cornejo; Helio Pedrini; Ariane Machado-Lima; Fátima de Lourdes Dos Santos Nunes
Journal:  J Med Imaging (Bellingham)       Date:  2017-12-12

8.  Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to Down syndrome phenotypes.

Authors:  Jennifer Keck-Wherley; Deepak Grover; Sharmistha Bhattacharyya; Xiufen Xu; Derek Holman; Eric D Lombardini; Ranjana Verma; Roopa Biswas; Zygmunt Galdzicki
Journal:  Dev Neurosci       Date:  2011-10-27       Impact factor: 2.984

9.  Overexpressed Down Syndrome Cell Adhesion Molecule (DSCAM) Deregulates P21-Activated Kinase (PAK) Activity in an In Vitro Neuronal Model of Down Syndrome: Consequences on Cell Process Formation and Extension.

Authors:  Ramón Pérez-Núñez; Natalia Barraza; Arlek Gonzalez-Jamett; Ana Maria Cárdenas; Jean-Vianney Barnier; Pablo Caviedes
Journal:  Neurotox Res       Date:  2016-03-10       Impact factor: 3.911

10.  Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1.

Authors:  A R Zinn; V S Tonk; Z Chen; W L Flejter; H A Gardner; R Guerra; H Kushner; S Schwartz; V P Sybert; D L Van Dyke; J L Ross
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025
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