Literature DB >> 11424927

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations.

E Rossi, F Piccini, M Zollino, G Neri, D Caselli, R Tenconi, C Castellan, R Carrozzo, C Danesino, O Zuffardi, A Ragusa, L Castiglia, O Galesi, D Greco, C Romano, M Pierluigi, C Perfumo, M Di Rocco, F Faravelli, F Dagna Bricarelli, M Bonaglia, M Bedeschi, R Borgatti.   

Abstract

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Year:  2001        PMID： 11424927      PMCID： PMC1734891          DOI： 10.1136/jmg.38.6.417

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


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  23 in total

Review 1.  Telomeres: a diagnosis at the end of the chromosomes.

Authors:  B B A De Vries; R Winter; A Schinzel; C van Ravenswaaij-Arts
Journal:  J Med Genet       Date:  2003-06       Impact factor: 6.318

2.  Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Authors:  William B Dobyns; Ghayda Mirzaa; Susan L Christian; Kristin Petras; Jessica Roseberry; Gary D Clark; Cynthia J R Curry; Donna McDonald-McGinn; Livija Medne; Elaine Zackai; Julie Parsons; Dina J Zand; Fuki M Hisama; Christopher A Walsh; Richard J Leventer; Christa L Martin; Marzena Gajecka; Lisa G Shaffer
Journal:  Am J Med Genet A       Date:  2008-07-01       Impact factor: 2.802

Review 3.  Chromosome analysis: what and when to request.

Authors:  F H Sharkey; E Maher; D R FitzPatrick
Journal:  Arch Dis Child       Date:  2005-12       Impact factor: 3.791

4.  Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

Authors:  D A Koolen; W M Nillesen; M H A Versteeg; G F M Merkx; N V A M Knoers; M Kets; S Vermeer; C M A van Ravenswaaij; C G de Kovel; H G Brunner; D Smeets; B B A de Vries; E A Sistermans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

5.  "Familial" versus "sporadic" intellectual disability: contribution of subtelomeric rearrangements.

Authors:  Maryam Rafati; Mohammad R Ghadirzadeh; Yaser Heshmati; Homeira Adibi; Zarrintaj Keihanidoust; Mohammad R Eshraghian; Jila Dastan; Azadeh Hoseini; Marzieh Purhoseini; Saeed R Ghaffari
Journal:  Mol Cytogenet       Date:  2012-01-19       Impact factor: 2.009

6.  Subtelomeric rearrangements in idiopathic mental retardation.

Authors:  Gopalrao V N Velagaleti; Sally S Robinson; Bobby M Rouse; Vijay S Tonk; Lillian H Lockhart
Journal:  Indian J Pediatr       Date:  2005-08       Impact factor: 1.967

7.  Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience.

Authors:  C D M van Karnebeek; C Koevoets; S Sluijter; E K Bijlsma; D F M C Smeets; E J Redeker; R C M Hennekam; J M N Hoovers
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

8.  Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

Authors:  Elga F Belligni; Elisa Biamino; Cristina Molinatto; Jole Messa; Mauro Pierluigi; Francesca Faravelli; Orsetta Zuffardi; Giovanni B Ferrero; Margherita Cirillo Silengo
Journal:  Ital J Pediatr       Date:  2009-04-27       Impact factor: 2.638

9.  A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

Authors:  Sonja A de Munnik; Sixto García-Miñaúr; Alexander Hoischen; Bregje W van Bon; Kym M Boycott; Jeroen Schoots; Lies H Hoefsloot; Nine V A M Knoers; Ernie M H F Bongers; Han G Brunner
Journal:  Eur J Hum Genet       Date:  2013-11-06       Impact factor: 4.246

10.  Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

Authors:  Marjolein H Willemsen; Bridget A Fernandez; Carlos A Bacino; Erica Gerkes; Arjan P M de Brouwer; Rolph Pfundt; Birgit Sikkema-Raddatz; Stephen W Scherer; Christian R Marshall; Lorraine Potocki; Hans van Bokhoven; Tjitske Kleefstra
Journal:  Eur J Hum Genet       Date:  2009-11-18       Impact factor: 4.246
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