Literature DB >> 18266245

Further clinical description of duplication of Williams-Beuren region presenting with congenital glaucoma and brachycephaly.

J L Merritt1, N M Lindor.   

Abstract

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Year:  2008        PMID： 18266245     DOI： 10.1002/ajmg.a.32235

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


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  8 in total

1.  Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.

Authors:  S Goobie; J Knijnenburg; D Fitzpatrick; F H Sharkey; A C Lionel; C R Marshall; T Azam; M Shago; K Chong; R Mendoza-Londono; N S den Hollander; C Ruivenkamp; E Maher; H J Tanke; K Szuhai; R F Wintle; S W Scherer
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

2.  Children with 7q11.23 duplication syndrome: psychological characteristics.

Authors:  Carolyn B Mervis; Bonita P Klein-Tasman; Myra J Huffman; Shelley L Velleman; C Holley Pitts; Danielle R Henderson; Janet Woodruff-Borden; Colleen A Morris; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-04-21       Impact factor: 2.802

Review 3.  Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Authors:  Giuseppe Merla; Nicola Brunetti-Pierri; Lucia Micale; Carmela Fusco
Journal:  Hum Genet       Date:  2010-05-01       Impact factor: 4.132

4.  Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.

Authors:  Patrick Malenfant; Xudong Liu; Melissa L Hudson; Ying Qiao; Monica Hrynchak; Noémie Riendeau; M Jeannette Hildebrand; Ira L Cohen; Albert E Chudley; Cynthia Forster-Gibson; Elizabeth C R Mickelson; Evica Rajcan-Separovic; M E Suzanne Lewis; Jeanette J A Holden
Journal:  J Autism Dev Disord       Date:  2012-07

Review 5.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

6.  7q11.23 Duplication syndrome: Physical characteristics and natural history.

Authors:  Colleen A Morris; Carolyn B Mervis; Alex P Paciorkowski; Omar Abdul-Rahman; Sarah L Dugan; Alan F Rope; Patricia Bader; Laura G Hendon; Shelley L Velleman; Bonita P Klein-Tasman; Lucy R Osborne
Journal:  Am J Med Genet A       Date:  2015-09-03       Impact factor: 2.802

7.  Copy number variations associated with fetal congenital kidney malformations.

Authors:  Meiying Cai; Na Lin; Linjuan Su; Xiaoqing Wu; Xiaorui Xie; Ying Li; Xuemei Chen; Yuan Lin; Hailong Huang; Liangpu Xu
Journal:  Mol Cytogenet       Date:  2020-03-24       Impact factor: 2.009

8.  Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays.

Authors:  Meiying Cai; Na Lin; Linjuan Su; Xiaoqing Wu; Xiaorui Xie; Ying Li; Xuemei Chen; Yifang Dai; Yuan Lin; Hailong Huang; Liangpu Xu
Journal:  J Clin Lab Anal       Date:  2019-09-10       Impact factor: 2.352
  8 in total

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