Literature DB >> 22488807

A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male.

Page L Sorensen1, Kirin Basuta, Guadalupe Mendoza-Morales, Louise W Gane, Andrea Schneider, Randi Hagerman, Flora Tassone.   

Abstract

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Year:  2012        PMID： 22488807      PMCID： PMC3331966          DOI： 10.1002/ajmg.a.35293

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


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  19 in total

1.  Compound heterozygous female with fragile X syndrome.

Authors:  M G Linden; F Tassone; L W Gane; J L Hills; R J Hagerman; A K Taylor
Journal:  Am J Med Genet       Date:  1999-04-02

2.  Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

Authors:  Carla S D'Angelo; José A Da Paz; Chong A Kim; Débora R Bertola; Claudia I E Castro; Monica C Varela; Célia P Koiffmann
Journal:  Eur J Med Genet       Date:  2006-03-10       Impact factor: 2.708

3.  1p36 deletion syndrome associated with Prader-Willi-like phenotype.

Authors:  Yu Tsuyusaki; Hiroshi Yoshihashi; Noritaka Furuya; Masanori Adachi; Hitoshi Osaka; Kayono Yamamoto; Kenji Kurosawa
Journal:  Pediatr Int       Date:  2010-08       Impact factor: 1.524

4.  The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity.

Authors:  Katherine Gotham; Susan Risi; Andrew Pickles; Catherine Lord
Journal:  J Autism Dev Disord       Date:  2006-12-16

5.  The Prader-Willi phenotype of fragile X syndrome.

Authors:  Stephen T Nowicki; Flora Tassone; Michele Y Ono; Jessica Ferranti; Marie Francoise Croquette; Beth Goodlin-Jones; Randi J Hagerman
Journal:  J Dev Behav Pediatr       Date:  2007-04       Impact factor: 2.225

6.  A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

Authors:  Flora Tassone; Ruiqin Pan; Khaled Amiri; Annette K Taylor; Paul J Hagerman
Journal:  J Mol Diagn       Date:  2007-12-28       Impact factor: 5.568

7.  An unusual fragile X sibship: female compound heterozygote and male with a partially methylated full mutation.

Authors:  S Russo; V Briscioli; F Cogliati; M Macchi; F Lalatta; L Larizza
Journal:  Clin Genet       Date:  1998-10       Impact factor: 4.438

8.  Examination of FMR1 transcript and protein levels among 74 premutation carriers.

Authors:  Emmanuel Peprah; Weiya He; Emily Allen; Tiffany Oliver; Alex Boyne; Stephanie L Sherman
Journal:  J Hum Genet       Date:  2009-11-20       Impact factor: 3.172

9.  Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

Authors:  Kana Hosoki; Masayo Kagami; Touju Tanaka; Masaya Kubota; Kenji Kurosawa; Mitsuhiro Kato; Kimiaki Uetake; Jun Tohyama; Tsutomu Ogata; Shinji Saitoh
Journal:  J Pediatr       Date:  2009-10-01       Impact factor: 4.406

10.  A quantitative ELISA assay for the fragile x mental retardation 1 protein.

Authors:  Christine Iwahashi; Flora Tassone; Randi J Hagerman; Dag Yasui; George Parrott; Danh Nguyen; Greg Mayeur; Paul J Hagerman
Journal:  J Mol Diagn       Date:  2009-05-21       Impact factor: 5.568
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  5 in total

1.  Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.

Authors:  Edda Haberlandt; Sibylle Zotter; Martina Witsch-Baumgartner; Johannes Zschocke; Dieter Kotzot
Journal:  Eur J Pediatr       Date:  2014-07-17       Impact factor: 3.183

Review 2.  Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome.

Authors:  Zukhrofi Muzar; Reymundo Lozano
Journal:  Intractable Rare Dis Res       Date:  2014-11

3.  Identification of a male with fragile X syndrome through newborn screening.

Authors:  Jessica Famula; Kirin Basuta; Louise W Gane; Randi J Hagerman; Flora Tassone
Journal:  Intractable Rare Dis Res       Date:  2015-11

4.  Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants.

Authors:  A Sadhwani; J M Willen; H Miller; R Barbieri-Welge; L T Horowitz; L M Noll; S Peters; R Hundley; L M Bird; W H Tan
Journal:  J Intellect Disabil Res       Date:  2019-12-19

Review 5.  Cascade health service use in family members following genetic testing in children: a scoping literature review.

Authors:  Alexandra Cernat; Robin Z Hayeems; Wendy J Ungar
Journal:  Eur J Hum Genet       Date:  2021-08-26       Impact factor: 4.246
  5 in total

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