Literature DB >> 16767429

[Speech impairment and the Smith-Magenis syndrome].

C Bergmann1, S Morlot, M Ptok.   

Abstract

The Smith-Magenis syndrome (SMS) is a distinct multiple congenital anomaly caused by an interstitial deletion of the chromosome 17 p11.2. The phenotype includes dysmorphic features, mental retardation, speech delay, signs of peripheral neuropathy, and neurobehavioral problems. Also sensorineural and conduction hearing loss are described. In children with speech delay the physician should consider a genetic or syndromal disease.

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Year:  2007        PMID: 16767429     DOI: 10.1007/s00106-006-1430-7

Source DB:  PubMed          Journal:  HNO        ISSN: 0017-6192            Impact factor:   1.284


  11 in total

1.  Communicative competence and behavioural phenotype in children with Smith-Magenis syndrome.

Authors:  K Sarimski
Journal:  Genet Couns       Date:  2004

2.  [German phoneme contrast hierarchy. A study with preschool children].

Authors:  M Ptok; C Lichte; N Buller; T Wink; C L Naumann
Journal:  HNO       Date:  2005-02       Impact factor: 1.284

3.  Brief report: cognitive and behavioral profiles in persons with Smith-Magenis syndrome.

Authors:  E M Dykens; B M Finucane; C Gayley
Journal:  J Autism Dev Disord       Date:  1997-04

4.  Interstitial deletion of (17)(p11.2p11.2) in nine patients.

Authors:  A C Smith; L McGavran; J Robinson; G Waldstein; J Macfarlane; J Zonona; J Reiss; M Lahr; L Allen; E Magenis
Journal:  Am J Med Genet       Date:  1986-07

5.  The face of Smith-Magenis syndrome: a subjective and objective study.

Authors:  J E Allanson; F Greenberg; A C Smith
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

6.  Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

Authors:  F Greenberg; R A Lewis; L Potocki; D Glaze; J Parke; J Killian; M A Murphy; D Williamson; F Brown; R Dutton; C McCluggage; E Friedman; M Sulek; J R Lupski
Journal:  Am J Med Genet       Date:  1996-03-29

7.  [Pragmatic language impairment in children].

Authors:  M Ptok
Journal:  HNO       Date:  2005-11       Impact factor: 1.284

8.  Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

Authors:  A C Smith; E Dykens; F Greenberg
Journal:  Am J Med Genet       Date:  1998-03-28

9.  Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

Authors:  R F Stratton; W B Dobyns; F Greenberg; J B DeSana; C Moore; G Fidone; G H Runge; P Feldman; G S Sekhon; R M Pauli
Journal:  Am J Med Genet       Date:  1986-07

10.  Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Authors:  F Greenberg; V Guzzetta; R Montes de Oca-Luna; R E Magenis; A C Smith; S F Richter; I Kondo; W B Dobyns; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

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