Literature DB >> 31270733

1q21.1 Deletions and Duplications in 2 Siblings with Psychiatric Problems.

Hande Kaymakçalan1, Peining Li2.   

Abstract

Mesh:

Year:  2019        PMID: 31270733     DOI: 10.1007/s12098-019-03014-2

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


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  5 in total

1.  Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.

Authors:  P T Goodbourn; J M Bosten; G Bargary; R E Hogg; A J Lawrance-Owen; J D Mollon
Journal:  Genes Brain Behav       Date:  2013-11-07       Impact factor: 3.449

2.  Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

Authors:  Nicola Brunetti-Pierri; Jonathan S Berg; Fernando Scaglia; John Belmont; Carlos A Bacino; Trilochan Sahoo; Seema R Lalani; Brett Graham; Brendan Lee; Marwan Shinawi; Joseph Shen; Sung-Hae L Kang; Amber Pursley; Timothy Lotze; Gail Kennedy; Susan Lansky-Shafer; Christine Weaver; Elizabeth R Roeder; Theresa A Grebe; Georgianne L Arnold; Terry Hutchison; Tyler Reimschisel; Stephen Amato; Michael T Geragthy; Jeffrey W Innis; Ewa Obersztyn; Beata Nowakowska; Sally S Rosengren; Patricia I Bader; Dorothy K Grange; Sayed Naqvi; Adolfo D Garnica; Saunder M Bernes; Chin-To Fong; Anne Summers; W David Walters; James R Lupski; Pawel Stankiewicz; Sau Wai Cheung; Ankita Patel
Journal:  Nat Genet       Date:  2008-12       Impact factor: 38.330

3.  Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Authors:  Raphael Bernier; Kyle J Steinman; Beau Reilly; Arianne Stevens Wallace; Elliott H Sherr; Nicholas Pojman; Heather C Mefford; Jennifer Gerdts; Rachel Earl; Ellen Hanson; Robin P Goin-Kochel; Leandra Berry; Stephen Kanne; LeeAnne Green Snyder; Sarah Spence; Melissa B Ramocki; David W Evans; John E Spiro; Christa L Martin; David H Ledbetter; Wendy K Chung
Journal:  Genet Med       Date:  2015-06-11       Impact factor: 8.822

4.  Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Authors:  Heather C Mefford; Andrew J Sharp; Carl Baker; Andy Itsara; Zhaoshi Jiang; Karen Buysse; Shuwen Huang; Viv K Maloney; John A Crolla; Diana Baralle; Amanda Collins; Catherine Mercer; Koen Norga; Thomy de Ravel; Koen Devriendt; Ernie M H F Bongers; Nicole de Leeuw; William Reardon; Stefania Gimelli; Frederique Bena; Raoul C Hennekam; Alison Male; Lorraine Gaunt; Jill Clayton-Smith; Ingrid Simonic; Soo Mi Park; Sarju G Mehta; Serena Nik-Zainal; C Geoffrey Woods; Helen V Firth; Georgina Parkin; Marco Fichera; Santina Reitano; Mariangela Lo Giudice; Kelly E Li; Iris Casuga; Adam Broomer; Bernard Conrad; Markus Schwerzmann; Lorenz Räber; Sabina Gallati; Pasquale Striano; Antonietta Coppola; John L Tolmie; Edward S Tobias; Chris Lilley; Lluis Armengol; Yves Spysschaert; Patrick Verloo; Anja De Coene; Linde Goossens; Geert Mortier; Frank Speleman; Ellen van Binsbergen; Marcel R Nelen; Ron Hochstenbach; Martin Poot; Louise Gallagher; Michael Gill; Jon McClellan; Mary-Claire King; Regina Regan; Cindy Skinner; Roger E Stevenson; Stylianos E Antonarakis; Caifu Chen; Xavier Estivill; Björn Menten; Giorgio Gimelli; Susan Gribble; Stuart Schwartz; James S Sutcliffe; Tom Walsh; Samantha J L Knight; Jonathan Sebat; Corrado Romano; Charles E Schwartz; Joris A Veltman; Bert B A de Vries; Joris R Vermeesch; John C K Barber; Lionel Willatt; May Tassabehji; Evan E Eichler
Journal:  N Engl J Med       Date:  2008-09-10       Impact factor: 91.245

5.  Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.

Authors:  Martina Busè; Helenia C Cuttaia; Daniela Palazzo; Marcella V Mazara; Salvatrice A Lauricella; Michela Malacarne; Mauro Pierluigi; Simona Cavani; Maria Piccione
Journal:  Ital J Pediatr       Date:  2017-07-19       Impact factor: 2.638

  5 in total
  1 in total

1.  Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation.

Authors:  Yichuan Liu; Hui-Qi Qu; Xiao Chang; Kenny Nguyen; Jingchun Qu; Lifeng Tian; Joseph Glessner; Patrick Ma Sleiman; Hakon Hakonarson
Journal:  Exp Biol Med (Maywood)       Date:  2021-07-07
  1 in total

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