Literature DB >> 19610101

A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome.

Chad R Haldeman-Englert1, Taiyabah Naeem, Elizabeth A Geiger, Ashley Warnock, Holly Feret, Melissa Ciano, Stefanie L Davidson, Matthew A Deardorff, Elaine H Zackai, Tamim H Shaikh.   

Abstract

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Year:  2009        PMID： 19610101      PMCID： PMC2736557          DOI： 10.1002/ajmg.a.32980

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


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  19 in total

1.  Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).

Authors:  E Schollen; C G Frank; L Keldermans; R Reyntjens; C E Grubenmann; P T Clayton; B G Winchester; J Smeitink; R A Wevers; M Aebi; T Hennet; G Matthijs
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

2.  Mutation analysis of B3GALTL in Peters Plus syndrome.

Authors:  Linda M Reis; Rebecca C Tyler; Omar Abdul-Rahman; Pamela Trapane; Robert Wallerstein; Diane Broome; Jodi Hoffman; Aneal Khan; Christina Paradiso; Nitin Ron; Amanda Bergner; Elena V Semina
Journal:  Am J Med Genet A       Date:  2008-10-15       Impact factor: 2.802

3.  Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy.

Authors:  A-M Bisgaard; M Kirchhoff; J E Nielsen; M Kibaek; A Lund; M Schwartz; E Christensen
Journal:  Clin Genet       Date:  2008-11-21       Impact factor: 4.438

4.  Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke.

Authors:  Rozenn N Lemaitre; Kenneth Rice; Kristin Marciante; Joshua C Bis; Thomas S Lumley; Kerri L Wiggins; Nicholas L Smith; Susan R Heckbert; Bruce M Psaty
Journal:  Atherosclerosis       Date:  2008-11-01       Impact factor: 5.162

5.  A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts.

Authors:  Taisto Y K Heinonen; Leena Pasternack; Katri Lindfors; Christelle Breton; Louis N Gastinel; Markku Mäki; Heikki Kainulainen
Journal:  Biochem Biophys Res Commun       Date:  2003-09-12       Impact factor: 3.575

6.  Differential expression of heat shock protein 105 in melanoma and melanocytic naevi.

Authors:  Faith Chengetayi Muchemwa; Tetsuya Nakatsura; Satoshi Fukushima; Yasuharu Nishimura; Toshiro Kageshita; Hironobu Ihn
Journal:  Melanoma Res       Date:  2008-06       Impact factor: 3.599

7.  The role of LTA4H and ALOX5AP polymorphism in asthma and allergy susceptibility.

Authors:  J W Holloway; S J Barton; S T Holgate; M J Rose-Zerilli; I Sayers
Journal:  Allergy       Date:  2008-06-10       Impact factor: 13.146

Review 8.  The Peters' plus syndrome: a review.

Authors:  Liesbeth J J M Maillette de Buy Wenniger-Prick; Raoul C M Hennekam
Journal:  Ann Genet       Date:  2002 Apr-Jun

9.  Genetic alterations associated with cryptorchidism.

Authors:  Alberto Ferlin; Daniela Zuccarello; Biagio Zuccarello; Maria Rosaria Chirico; Giovanni Franco Zanon; Carlo Foresta
Journal:  JAMA       Date:  2008-11-19       Impact factor: 56.272

Review 10.  Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats.

Authors:  Taisto Y K Heinonen; Markku Maki
Journal:  Ann Med       Date:  2009       Impact factor: 4.709
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  7 in total

1.  Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Authors:  E Weh; L M Reis; R C Tyler; D Bick; W J Rhead; S Wallace; T L McGregor; S K Dills; M-C Chao; J C Murray; E V Semina
Journal:  Clin Genet       Date:  2013-09-17       Impact factor: 4.438

Review 2.  Genetics of anterior segment dysgenesis disorders.

Authors:  Linda M Reis; Elena V Semina
Journal:  Curr Opin Ophthalmol       Date:  2011-09       Impact factor: 3.761

Review 3.  Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.

Authors:  D Marques-da-Silva; R Francisco; D Webster; V Dos Reis Ferreira; J Jaeken; T Pulinilkunnil
Journal:  J Inherit Metab Dis       Date:  2017-07-19       Impact factor: 4.982

4.  A missense mutation in Katnal1 underlies behavioural, neurological and ciliary anomalies.

Authors:  G Banks; G Lassi; A Hoerder-Suabedissen; F Tinarelli; M M Simon; A Wilcox; P Lau; T N Lawson; S Johnson; A Rutman; M Sweeting; J E Chesham; A R Barnard; N Horner; H Westerberg; L B Smith; Z Molnár; M H Hastings; R A Hirst; V Tucci; P M Nolan
Journal:  Mol Psychiatry       Date:  2017-04-04       Impact factor: 15.992

5.  Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Authors:  Eric Weh; Hideyuki Takeuchi; Sanaa Muheisen; Robert S Haltiwanger; Elena V Semina
Journal:  PLoS One       Date:  2017-09-19       Impact factor: 3.240

6.  Transcriptomics unravels molecular players shaping dorsal lip hypertrophy in the vacuum cleaner cichlid, Gnathochromis permaxillaris.

Authors:  Laurène Alicia Lecaudey; Pooja Singh; Christian Sturmbauer; Anna Duenser; Wolfgang Gessl; Ehsan Pashay Ahi
Journal:  BMC Genomics       Date:  2021-07-05       Impact factor: 3.969

7.  Prenatal diagnosis of fetal peters' plus syndrome: a case report.

Authors:  Neerja Gupta; Anita Kaul; Madhulika Kabra
Journal:  Case Rep Genet       Date:  2013-07-29
  7 in total

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