Literature DB >> 20034079

An 18-year follow-up report on an infant with a duplication of 9q34.

Erin L Youngs1, Timothy McCord, Jessica A Hellings, Nancy B Spinner, Adele Schneider, Merlin G Butler.   

Abstract

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Year:  2010        PMID： 20034079      PMCID： PMC6800088          DOI： 10.1002/ajmg.a.33196

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  Partial trisomy 9q: a new syndrome.

Authors:  C Turleau; J de Grouchy; F Chavin-Colin; M Roubin; P E Brissaud; G Repessé; A Safar; P Borniche
Journal:  Humangenetik       Date:  1975-09-23

2.  A human homologue of the Drosophila developmental gene, Notch, is expressed in CD34+ hematopoietic precursors.

Authors:  L A Milner; R Kopan; D I Martin; I D Bernstein
Journal:  Blood       Date:  1994-04-15       Impact factor: 22.113

3.  Identification of Sin1 as an essential TORC2 component required for complex formation and kinase activity.

Authors:  Qian Yang; Ken Inoki; Tsuneo Ikenoue; Kun-Liang Guan
Journal:  Genes Dev       Date:  2006-10-15       Impact factor: 11.361

Review 4.  Another look at collagen V and XI molecules.

Authors:  A Fichard; J P Kleman; F Ruggiero
Journal:  Matrix Biol       Date:  1995-07       Impact factor: 11.583

5.  Duplication 9q34 syndrome.

Authors:  P W Allderdice; B Eales; H Onyett; W Sprague; K Henderson; P A Lefeuvre; G Pal
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

6.  Cloning, expression analysis and chromosomal localization of the human nuclear receptor gene GCNF.

Authors:  I Y Agoulnik; Y Cho; C Niederberger; D G Kieback; A J Cooney
Journal:  FEBS Lett       Date:  1998-03-06       Impact factor: 4.124

7.  Duplication 9q34-->qter identified by chromosome painting.

Authors:  N B Spinner; J N Lucas; M Poggensee; M Jacquette; A Schneider
Journal:  Am J Med Genet       Date:  1993-03-01

8.  A girl with duplication 9q34 syndrome.

Authors:  Katarzyna Gawlik-Kuklinska; Mariola Iliszko; Agnieszka Wozniak; Maria Debiec-Rychter; Iwona Kardas; Jolanta Wierzba; Janusz Limon
Journal:  Am J Med Genet A       Date:  2007-09-01       Impact factor: 2.802

9.  Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity.

Authors:  S Guazzi; M Price; M De Felice; G Damante; M G Mattei; R Di Lauro
Journal:  EMBO J       Date:  1990-11       Impact factor: 11.598

10.  Mutations in human dynamin block an intermediate stage in coated vesicle formation.

Authors:  A M van der Bliek; T E Redelmeier; H Damke; E J Tisdale; E M Meyerowitz; S L Schmid
Journal:  J Cell Biol       Date:  1993-08       Impact factor: 10.539
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  3 in total

1.  9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.

Authors:  Maria Teresa Bonati; Chiara Castronovo; Alessandra Sironi; Dario Zimbalatti; Ilaria Bestetti; Milena Crippa; Antonio Novelli; Sara Loddo; Maria Lisa Dentici; Juliet Taylor; Françoise Devillard; Lidia Larizza; Palma Finelli
Journal:  Neurogenetics       Date:  2019-06-17       Impact factor: 2.660

2.  The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.

Authors:  Sarah M Al-Qattan; Salma M Wakil; Shamsa Anazi; Anas M Alazami; Nisha Patel; Ranad Shaheen; Hanan E Shamseldin; Samya T Hagos; Haya M AlDossari; Mustafa A Salih; Heba Y El Khashab; Amal Y Kentab; Mohammed N AlNasser; Fahad A Bashiri; Namik Kaya; Mais O Hashem; Fowzan S Alkuraya
Journal:  Genet Med       Date:  2014-12-11       Impact factor: 8.822

3.  A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.

Authors:  Shalinder Singh; Fern Ashton; Renate Marquis-Nicholson; Jennifer M Love; Chuan-Ching Lan; Salim Aftimos; Alice M George; Donald R Love
Journal:  Case Rep Pediatr       Date:  2012-11-13
  3 in total

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