Le syndrome de Smith-Magenis

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[2]  F. Greenberg,et al.  Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). , 1998, American journal of medical genetics.

[3]  P. Patel,et al.  Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions. , 1997, American journal of human genetics.

[4]  Y. Nakamura,et al.  The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. , 1997, American journal of medical genetics.

[5]  P. Patel,et al.  Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. , 1996, American journal of medical genetics.

[6]  F Greenberg,et al.  Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. , 1996, American journal of human genetics.

[7]  R. Winter,et al.  An unusual presentation of Smith-Magenis syndrome with iris dysgenesis. , 1996, Clinical dysmorphology.

[8]  C McCluggage,et al.  Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) , 1996, American journal of medical genetics.

[9]  L. Shaffer,et al.  Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. , 1995, American journal of medical genetics.

[10]  M. Penttinen,et al.  Ring Chromosome 20 Mosaicism in a Girl with Complex Partial Seizures , 1994, Developmental medicine and child neurology.

[11]  B. Finucane,et al.  The Spasmodic Upper‐body Squeeze: a Chalacteristic Behavior in Smith‐Magenis Syndrome , 1994, Developmental medicine and child neurology.

[12]  B. Finucane,et al.  Eye abnormalities in the Smith-Magenis contiguous gene deletion syndrome. , 1993, American journal of medical genetics.

[13]  J. Lupski,et al.  Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2). , 1991, American journal of human genetics.

[14]  N. Niikawa,et al.  Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2) , 1991, American journal of medical genetics.

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[17]  M. Leversha,et al.  Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p 11.2 p 11.2) (Smith‐Magenis syndrome) , 1990, Journal of paediatrics and child health.

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[20]  J. Opitz,et al.  Interstitial deletion of (17)(p11.2p11.2) in nine patients. , 1986, American journal of medical genetics.

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