Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

[1]  B. Finucane,et al.  Brief Report: Cognitive and Behavioral Profiles in Persons with Smith-Magenis Syndrome , 1997, Journal of autism and developmental disorders.

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

[3]  J. Lupski,et al.  Ophthalmic manifestations of Smith-Magenis syndrome. , 1996, Ophthalmology.

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

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

[6]  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.

[7]  B. Trask,et al.  Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. , 1995, American journal of medical genetics.

[8]  S. S. Schneider,et al.  The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2. , 1995, American journal of human genetics.

[9]  F. Baas,et al.  A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies , 1994, Nature Genetics.

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

[11]  J. Lupski,et al.  Inherited primary peripheral neuropathies. Molecular genetics and clinical implications of CMT1A and HNPP. , 1993, JAMA.

[12]  D. Abuelo,et al.  Smith-Magenis syndrome (interstitial deletion of chromosome 17p) and congenital heart disease , 1993, Cardiology in the Young.

[13]  D. J. Driscoll,et al.  Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. , 1993, American journal of medical genetics.

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

[15]  C. Disteche,et al.  DNA deletion associated with hereditary neuropathy with liability to pressure palsies , 1993, Cell.

[16]  A. C. Chinault,et al.  Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit , 1992, Nature Genetics.

[17]  B. Trask,et al.  Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. , 1992, American journal of human genetics.

[18]  B. Trask,et al.  Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p. , 1992, Genomics.

[19]  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.

[20]  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.

[21]  M. Mattei,et al.  Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases. , 1991, Journal of medical genetics.

[22]  C. Catsman-Berrevoets,et al.  Clinical and Chromosome Studies of Three Patients with Smith‐Magenis Syndrome , 1991, Developmental medicine and child neurology.

[23]  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.

[24]  G van den Engh,et al.  Parallel processing data acquisition system for multilaser flow cytometry and cell sorting. , 1989, Cytometry.

[25]  G van den Engh,et al.  Improved resolution of flow cytometric measurements of Hoechst- and chromomycin-A3-stained human chromosomes after addition of citrate and sulfite. , 1988, Cytometry.

[26]  R. Pauli,et al.  Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome. , 1986, American journal of medical genetics.

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

[28]  J W Gray,et al.  Preparation and bivariate analysis of suspensions of human chromosomes. , 1985, Cytometry.

[29]  G. van den Engh,et al.  Photo-bleaching and photon saturation in flow cytometry. , 1992, Cytometry.

[30]  B. Trask,et al.  Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping. , 1990, Cytometry.

[31]  N. Carter,et al.  Study of X chromosome abnormality in XX males using bivariate flow karyotype analysis and flow sorted dot blots. , 1990, Cytometry.

[32]  B. Trask,et al.  A computer program for analyzing bivariate flow karyotypes. , 1990, Cytometry.

[33]  B. Trask,et al.  Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping. , 1989, American journal of human genetics.

[34]  S. Latt,et al.  Identification of inverted duplicated #15 chromosomes using bivariate flow cytometric analysis. , 1985, Cytometry.