Literature DB >> 18717687

Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.

K Derwińska, J Bernaciak, B Wiśniowiecka-Kowalnik, E Obersztyn, E Bocian, P Stankiewicz.   

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Year:  2008        PMID： 18717687     DOI： 10.1111/j.1399-0004.2008.01077.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  7 in total

1.  Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Authors:  Jill A Rosenfeld; Dina Amrom; Eva Andermann; Frederick Andermann; Martin Veilleux; Cynthia Curry; Jamie Fisher; Stephen Deputy; Arthur S Aylsworth; Cynthia M Powell; Kandamurugu Manickam; Bryce Heese; Melissa Maisenbacher; Cathy Stevens; Jay W Ellison; Sheila Upton; John Moeschler; Wilfredo Torres-Martinez; Abby Stevens; Robert Marion; Elaine Maria Pereira; Melanie Babcock; Bernice Morrow; Trilochan Sahoo; Allen N Lamb; Blake C Ballif; Alex R Paciorkowski; Lisa G Shaffer
Journal:  Neurogenetics       Date:  2012-01-05       Impact factor: 2.660

2.  Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Authors:  Avinash V Dharmadhikari; Sung-Hae L Kang; Przemyslaw Szafranski; Richard E Person; Srirangan Sampath; Siddharth K Prakash; Patricia I Bader; John A Phillips; Vickie Hannig; Misti Williams; Sherry S Vinson; Angus A Wilfong; Tyler E Reimschisel; William J Craigen; Ankita Patel; Weimin Bi; James R Lupski; John Belmont; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Mol Genet       Date:  2012-04-27       Impact factor: 6.150

3.  Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.

Authors:  Ryan N Traylor; Zheng Fan; Beth Hudson; Jill A Rosenfeld; Lisa G Shaffer; Beth S Torchia; Blake C Ballif
Journal:  Mol Cytogenet       Date:  2009-08-07       Impact factor: 2.009

4.  Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.

Authors:  Elisa Tassano; Marisol Mirabelli-Badenier; Edvige Veneselli; Aldamaria Puliti; Margherita Lerone; Carlotta Maria Vaccari; Giovanni Morana; Simona Porta; Giorgio Gimelli; Cristina Cuoco
Journal:  Mol Cytogenet       Date:  2015-04-28       Impact factor: 2.009

5.  Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.

Authors:  Sean D Hooper; Anna C V Johansson; Christian Tellgren-Roth; Eva-Lena Stattin; Niklas Dahl; Lucia Cavelier; Lars Feuk
Journal:  BMC Med Genet       Date:  2012-12-19       Impact factor: 2.103

6.  Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.

Authors:  Magdalena Bartnik; Beata Nowakowska; Katarzyna Derwińska; Barbara Wiśniowiecka-Kowalnik; Marta Kędzior; Joanna Bernaciak; Kamila Ziemkiewicz; Tomasz Gambin; Maciej Sykulski; Natalia Bezniakow; Lech Korniszewski; Anna Kutkowska-Kaźmierczak; Jakub Klapecki; Krzysztof Szczałuba; Chad A Shaw; Tadeusz Mazurczak; Anna Gambin; Ewa Obersztyn; Ewa Bocian; Paweł Stankiewicz
Journal:  J Appl Genet       Date:  2013-12-03       Impact factor: 3.240

7.  An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder.

Authors:  Carolina Cappi; Ana Gabriela Hounie; Daniel B Mariani; Juliana Belo Diniz; Aderbal R T Silva; Viviane N S Reis; Ariane F Busso; Amanda Gonçalves Silva; Felipe Fidalgo; Silvia Regina Rogatto; Euripedes C Miguel; Ana C Krepischi; Helena Brentani
Journal:  PLoS One       Date:  2014-10-10       Impact factor: 3.240
  7 in total

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