DNA diagnostic screening for turner syndrome and sex...

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

Reexamination Certificate

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C536S024300, C435S091200

Reexamination Certificate

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07838223

ABSTRACT:
The present invention encompasses methods, assays and kits for the diagnosis, screening and identification of Turner syndrome and other disorders of sexual differentiation in a human using single nucleotide polymorphisms present on the X and Y chromosomes.

REFERENCES:
patent: 6258568 (2001-07-01), Nyren
patent: 2003/0092019 (2003-05-01), Meyer et al.
Home reference (ghr.nlm.nih.gov/chromosome=X).
Meng et al (The Journal of Endocrinology & Metabolism (2005) vol. 90, pp. 3419-3422, published online Mar. 29, 2005).
Donaghue et al ( Prenatal Diagnosis (2003) pp. 201-210).
Hirschhorn et al. (Genetics in Medicine. vol. 4, No. 2, pp. 45-61, Mar. 2002).
Alderborn et al., “Determination of Single-Nucleotide Polymorphisms by Real-Time Pyrophosphate DNA Sequencing,”Methods, vol. 12, pp. 1249-1258, 2000.
Blaschke, et al., “SHOX: Growth, Leri-Weill and Turner Syndromes,”Trends Endocrinol. Metab., vol. 11(6): pp. 227-230, 2000.
Boucher, et al., “Breakpoint Analysis of Turner Patients with Partial Xp Deletions: Implications for the Lymphoedema Gene Location,”J. Med. Genet., vol. 38, pp. 591-598, 2001.
Canto, et al., “Gonadoblastoma in Turner Syndrome Patients with Nonmosaic 45,X Karyotype and Y Chromosome Sequences,”Cancer Genetics and Cytogenetics, vol. 150, pp. 70-72, 2004.
Chen et al., “Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping,”Journal of Molecular Diagnostics, vol. 5(4), pp. 243-249, 2003.
Cirigliano, et al., “Rapid Detection of Chromosomes X and Y Aneuploidies by Quantitative Fluorescent PCR,”Prenatal Diagnosis, vol. 19, pp. 1099-1103, 1999.
Cormier-Daire, et al., “SHOX Gene Mutations and Deletions in Dyschondrosteosis or Leri-Weill Syndrome,”Acta Paediatr. Suppl., vol. 88, pp. 55-59, 1999.
Elahi, et al., “Pyrosequencing: A Tool for DNA Sequencing Analysis,”Methods in Molecular Biology, vol. 255, pp. 211-220, 2004.
Fakhrai-Rad, “Pyrosequencing: An Accurate Detection Platform for Single Nucleotide Polymorphisms,”Human Mutatation, vol. 19, pp. 479-485, 2002.
Gravholt, “Epidemiological, Endocrine and Metabolic Features in Turner Syndrome,”European Journal of Endocrinology, vol. 151, pp. 657-687, 2004.
Gunther, et al., “Ascertainment Bias in Turner Syndrome: New Insights From Girls Who Were Diagnosed Incidentally in Prenatal Life,”Pediatrics, vol. 114(3), pp. 640-644, 2004.
Haberecht, et al., “Functional Neuroanatomy of Visual-Spatial Working Memory in Turner Syndrome,”Brain Mapping, vol. 14, pp. 96-107, 2001.
Hall, et al., “Turner Syndrome and its Variants,”Pediatric Clinics of North America, vol. 37(6), pp. 1421-1440, 1990.
Heinrichs, et al., “Blood Spot Follicle-Stimulating Hormone During Early Postnatal Life in Normal Girls and Turner's Syndrome,”Journal of Clinical Endocrinology and Metabolism, vol. 78(4), pp. 978-981, 1994.
Henn, et al., “Mosaicism in Turner's Syndrome,”Nature, vol. 390, p. 569, 1997.
Hull, et al., “Growth Hormone Therapy and Quality of Life: Possibilities, Pitfalls and Mechanisms,”Journal of Endocrinology, vol. 179, pp. 311-333, 2003.
Kleczkowska, et al., “Cytogenetic Findings in a Consecutive Series of 478 Patients with Turner Syndrome. The Leuven Experience 1965-1989,”Genet. Couns., vol. 1(3-4), pp. 227-233, 1990.
Kosho, et al., “Skeletal Features and Growth Patterns in 14 Patients with Haploinsufficiency of SHOX: Implications for the Development of Turner Syndrome,”J. Clin. Endocrinol. Metab., vol. 84(12). pp. 4613-4621, 1999.
Longui, et al., “Molecular Detection of XO—Turner's Syndrome,”Genetics and MolecularResearch, vol. 1, pp. 266-270, 2002.
Massa, et al., “Trends in Age at Diagnosis of Turner Syndrome”Arch. Dis. Child., vol. 90, pp. 267-268, 2005.
Meng et al., “:Detection of Turner Syndrome Using High-Throughput Quantitative Genotyping,”The Journal of Clinical Endocrinology&Metabolism, vol. 90(6), pp. 3419-3422, 2005.
Parker, et al., “Screening Girls with Turner Syndrome: The National Cooperative Growth Study Experience,”Journal of Pediatrics, vol. 143, pp. 133-135, 203.
Plotnick, et al., “Growth Hormone Treatment of Girls with Turner Syndrome: The National Cooperative Growth Study Experience,”Pediatrics, vol. 102, pp. 479-481, 1998.
Pourmand, et al., “Multiplex Pyrosequencing,”Nucleic Acids Res., vol. 30(7), pp. e31, 2002.
Ranke, et al., “Turner's Syndrome,”Lancet, vol. 358, pp. 309-314, 2001.
Rosenfeld, et al., “Growth Hormone Therapy of Turner's Syndrome: Beneficial Effect on Adult Height,”The Journal of. Pediatrics., vol. 132,pp. 319-324, 1998.
Ross, et al., “Developmental Changes in Motor Function in Girls with Turner Syndrome,”Pediatric Neurology, vol. 15, pp. 317-322, 1996.
Ross, et al., “Effects of Estrogen on Nonverbal Processing Speed and Motor Function in Girls with turner's Syndrome,”Journal of Clinical Endocrinology and Metabolism, vol. 83, pp. 3198-3204, 1998.
Ross et al., “Androgen-Responsive Aspects of Cognition in Girls with Turner Syndrome,”The Journal of Clinical Endocrinology&Metabolism, vol. 88(1), pp. 292-296, 2003.
Saenger, et al., “Recommendations for the Diagnosis and Management of Turner Syndrome,”The Journal of Clinical Endocrinology&Metabolism, vol. 86(7), pp. 3061-3069, 2001.
Savendahl, et al., “Delayed Diagnoses of Turner's Syndrome: Proposed Guidelines for Change,”The Journal of Pediatrics, vol. 137, pp. 455-459, 2000.
Tsezou, et al., “Molecular Genetics of turner Syndrome: Correlation with Clinical Phenotype and Response to Growth Hormone Therapy,”Clinical Genetics, vol. 56, pp. 441-446, 1999.
Uehara, et al., “X Chromosome Inactivation Patterns in 45,X/46,XX Mosaics,”Journal of Human Genetics, vol. 46, pp. 126-131, 2001.
Vlasak, et al., “Screening of Patients with Turner Syndrome for ‘Hidden’ Y-Mosaicism,”Klin. Padiatr., vol. 211(1), pp. 30-34, 1999.

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