Literature DB >> 22227935

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.

Maria Piccione1, Cinzia Sanfilippo, Simona Cavani, Patrizia Salatiello, Michela Malacarne, Mauro Pierluigi, Marco Fichera, Daniela Luciano, Giovanni Corsello.   

Abstract

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Year:  2011        PMID： 22227935     DOI： 10.1007/s12041-011-0096-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  21 in total

1.  Functional disomy of Xp: prenatal findings and postnatal outcome.

Authors:  E Kolomietz; K Godbole; E J T Winsor; T Stockley; G Seaward; D Chitayat
Journal:  Am J Med Genet A       Date:  2005-05-01       Impact factor: 2.802

2.  Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Authors:  K Poirier; D Lacombe; B Gilbert-Dussardier; M Raynaud; V Desportes; A P M de Brouwer; C Moraine; J P Fryns; H H Ropers; C Beldjord; J Chelly; T Bienvenu
Journal:  Neurogenetics       Date:  2005-10-19       Impact factor: 2.660

3.  Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals.

Authors:  Laura Thorson; Christine Bryke; Gregory Rice; Amber Artzer; Christine Schilz; Jamie Israel; Suzanne Huber; Jennifer Laffin; Gordana Raca
Journal:  Am J Med Genet A       Date:  2010-04       Impact factor: 2.802

4.  Mutations in the calcium-related gene IL1RAPL1 are associated with autism.

Authors:  Amélie Piton; Jacques L Michaud; Huashan Peng; Swaroop Aradhya; Julie Gauthier; Laurent Mottron; Nathalie Champagne; Ronald G Lafrenière; Fadi F Hamdan; Ridha Joober; Eric Fombonne; Claude Marineau; Patrick Cossette; Marie-Pierre Dubé; Pejmun Haghighi; Pierre Drapeau; Philip A Barker; Salvatore Carbonetto; Guy A Rouleau
Journal:  Hum Mol Genet       Date:  2008-09-18       Impact factor: 6.150

5.  A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities.

Authors:  L Telvi; A Ion; J C Carel; I Desguerre; M Piraud; A M Boutin; J Feingold; G Ponsot; M Fellous; K McElreavey
Journal:  J Med Genet       Date:  1996-09       Impact factor: 6.318

6.  Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Authors:  Petter Strømme; Marie E Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz
Journal:  Nat Genet       Date:  2002-03-11       Impact factor: 38.330

7.  Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Authors:  D Lugtenberg; A P M de Brouwer; T Kleefstra; A R Oudakker; S G M Frints; C T R M Schrander-Stumpel; J P Fryns; L R Jensen; J Chelly; C Moraine; G Turner; J A Veltman; B C J Hamel; B B A de Vries; H van Bokhoven; H G Yntema
Journal:  J Med Genet       Date:  2005-09-16       Impact factor: 6.318

8.  A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

Authors:  T Kubota; S Nonoyama; H Tonoki; M Masuno; K Imaizumi; M Kojima; K Wakui; M Shimadzu; Y Fukushima
Journal:  Hum Genet       Date:  1999-01       Impact factor: 4.132

9.  Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).

Authors:  Giorgio Gimelli; Sabrina Giglio; Orsetta Zuffardi; Leena Alhonen; Suvikki Suppola; Roberto Cusano; Cristiana Lo Nigro; Rosanna Gatti; Roberto Ravazzolo; Marco Seri
Journal:  Hum Genet       Date:  2002-08-01       Impact factor: 4.132

10.  Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Authors:  Mitsuhiro Kato; Soma Das; Kristin Petras; Kunio Kitamura; Ken-Ichirou Morohashi; Diane N Abuelo; Mason Barr; Dominique Bonneau; Angela F Brady; Nancy J Carpenter; Karen L Cipero; Francesco Frisone; Takayuki Fukuda; Renzo Guerrini; Eri Iida; Masayuki Itoh; Amy Feldman Lewanda; Yukiko Nanba; Akira Oka; Virginia K Proud; Pascale Saugier-Veber; Susan L Schelley; Angelo Selicorni; Rachel Shaner; Margherita Silengo; Fiona Stewart; Noriyuki Sugiyama; Jun Toyama; Annick Toutain; Ana Lía Vargas; Masako Yanazawa; Elaine H Zackai; William B Dobyns
Journal:  Hum Mutat       Date:  2004-02       Impact factor: 4.878
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  3 in total

1.  MR Imaging Findings in Xp21.2 Duplication Syndrome.

Authors:  Matthew T Whitehead; Guy Helman; Andrea L Gropman
Journal:  J Radiol Case Rep       Date:  2016-05-31

2.  Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.

Authors:  Gerald Egger; Katharina M Roetzer; Abdul Noor; Anath C Lionel; Huda Mahmood; Thomas Schwarzbraun; Oliver Boright; Anna Mikhailov; Christian R Marshall; Christian Windpassinger; Erwin Petek; Stephen W Scherer; Wolfgang Kaschnitz; John B Vincent
Journal:  Neurogenetics       Date:  2014-03-19       Impact factor: 2.660

Review 3.  Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.

Authors:  Loredana Poeta; Michela Malacarne; Agnese Padula; Denise Drongitis; Lucia Verrillo; Maria Brigida Lioi; Andrea M Chiariello; Simona Bianco; Mario Nicodemi; Maria Piccione; Emanuela Salzano; Domenico Coviello; Maria Giuseppina Miano
Journal:  Int J Mol Sci       Date:  2022-03-13       Impact factor: 5.923
  3 in total

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