Literature DB >> 12960216

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

J J Luciani, P de Mas, D Depetris, C Mignon-Ravix, A Bottani, M Prieur, P Jonveaux, A Philippe, G Bourrouillou, B de Martinville, B Delobel, L Vallee, M-F Croquette, M-G Mattei.   

Abstract

Mesh：

Year:  2003        PMID： 12960216      PMCID： PMC1735584          DOI： 10.1136/jmg.40.9.690

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  40 in total

1.  Clinical utility gene card for: deletion 22q13 syndrome.

Authors:  Katy Phelan; Catalina Betancur
Journal:  Eur J Hum Genet       Date:  2010-12-08       Impact factor: 4.246

2.  Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome.

Authors:  Gilles Droogmans; Ann Swillen; Griet Van Buggenhout
Journal:  Mol Syndromol       Date:  2019-11-05

Review 3.  Phelan-McDermid Syndrome and SHANK3: Implications for Treatment.

Authors:  Jesse L Costales; Alexander Kolevzon
Journal:  Neurotherapeutics       Date:  2015-07       Impact factor: 7.620

4.  Atypical teratoid rhabdoid brain tumor in an infant with ring chromosome 22.

Authors:  Eun Hae Cho; Jae Bok Park; Jin Kyung Kim
Journal:  Korean J Pediatr       Date:  2014-07-23

Review 5.  Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.

Authors:  Hala Harony-Nicolas; Silvia De Rubeis; Alexander Kolevzon; Joseph D Buxbaum
Journal:  J Child Neurol       Date:  2015-09-08       Impact factor: 1.987

6.  22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Authors:  S U Dhar; D del Gaudio; J R German; S U Peters; Z Ou; P I Bader; J S Berg; M Blazo; C W Brown; B H Graham; T A Grebe; S Lalani; M Irons; S Sparagana; M Williams; J A Phillips; A L Beaudet; P Stankiewicz; A Patel; S W Cheung; T Sahoo
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

7.  Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

Authors:  Sara M Sarasua; Luigi Boccuto; Julia L Sharp; Alka Dwivedi; Chin-Fu Chen; Jonathan D Rollins; R Curtis Rogers; Katy Phelan; Barbara R DuPont
Journal:  Hum Genet       Date:  2014-01-31       Impact factor: 4.132

8.  The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.

Authors:  J Lloyd Holder; Michael M Quach
Journal:  Epilepsia       Date:  2016-08-24       Impact factor: 5.864

9.  Fusion of short telomeres in human cells is characterized by extensive deletion and microhomology, and can result in complex rearrangements.

Authors:  Boitelo T Letsolo; Jan Rowson; Duncan M Baird
Journal:  Nucleic Acids Res       Date:  2009-12-21       Impact factor: 16.971

10.  Phenotypic correlations in a patient with ring chromosome 22.

Authors:  Osman Demirhan; Erdal Tunç
Journal:  Indian J Hum Genet       Date:  2010-05
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.