Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Valerie Greger"'
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Compared with conventional genotyping, which typically tests for a limited number of mutations, next‐generation DNA sequencing (NGS) provides increased accuracy for carrier screening. The objective of this study was to evaluate the cost
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ad8f17f24aaee3da50e5ed4e6390b2
https://doi.org/10.1002/mgg3.204
https://doi.org/10.1002/mgg3.204
Autor:
Valerie Greger, Dana Neitzel, Cynthia Perreault-Micale, Jessica Sullivan, Nicole Faulkner, Stephanie Hallam, Alexander Frieden, Caleb J. Kennedy
Publikováno v:
The Journal of Molecular Diagnostics. 16(6):673-678
Loss of function variants in the PCDH15 gene can cause Usher syndrome type 1F, an autosomal recessive disease associated with profound congenital hearing loss, vestibular dysfunction, and retinitis pigmentosa. The Ashkenazi Jewish population has an i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51dca9d2b8828c32f40418a9ad59ecf4
Autor:
Brenda L. Gallie, Xiaoping Zhu, Bernhard Horsthemke, Wolfgang Höpping, Robert A. Phillips, Eberhard Passarge, Valerie Greger, Audrey D. Goddard
Publikováno v:
Europe PubMed Central
Use of an intragenic BamHI restriction fragment length polymorphism within the 5' end of the retinoblastoma gene (RB1) provided improved genetic counselling for five familial and ten non-familial retinoblastoma patients and their relatives. All other
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8319b0fd7b57861b57e4cffcf677e425
https://doi.org/10.1111/j.1399-0004.1990.tb03488.x
https://doi.org/10.1111/j.1399-0004.1990.tb03488.x
Publikováno v:
Molecular Genetics & Genomic Medicine
Carrier screening for certain diseases is recommended by major medical and Ashkenazi Jewish (AJ) societies. Most carrier screening panels test only for common, ethnic-specific variants. However, with formerly isolated ethnic groups becoming increasin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::016bd10f18a3905bcc8a19821941241c
https://pubmed.ncbi.nlm.nih.gov/26247052
https://pubmed.ncbi.nlm.nih.gov/26247052
Autor:
Stephanie Hallam, Charles Towne, Gregory J. Porreca, Brian Bishop, Patrick Saunders, Caleb J. Kennedy, Valerie Greger, Jodi D. Hoffman, Erin T. Strovel, Jaclyn Schienda, Mark Umbarger, Jocelyn Davie, Miriam G. Blitzer
Publikováno v:
Molecular Genetics & Genomic Medicine
Tay-Sachs disease (TSD) is the prototype for ethnic-based carrier screening, with a carrier rate of ~1/27 in Ashkenazi Jews and French Canadians. HexA enzyme analysis is the current gold standard for TSD carrier screening (detection rate ~98%), but h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45a2c186903c10e0bd2f8a617242ded0
https://pubmed.ncbi.nlm.nih.gov/24498621
https://pubmed.ncbi.nlm.nih.gov/24498621
Autor:
Benjamin Breton, Marcia M. Nizzari, Gregory J. Porreca, Mark Umbarger, Caleb J. Kennedy, Stephanie Hallam, Niru Chennagiri, Cynthia Micale, John Emhoff, Valerie Greger, George M. Church, Charles F. Towne, David Maganzini, Patrick Saunders
Publikováno v:
Genetics in Medicine
Purpose: Carrier screening for recessive Mendelian disorders traditionally employs focused genotyping to interrogate limited sets of mutations most prevalent in specific ethnic groups. We sought to develop a next-generation DNA sequencing–based wor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e29fc728a3f74b73b9edd9a46e36696d
https://pubmed.ncbi.nlm.nih.gov/23765052
https://pubmed.ncbi.nlm.nih.gov/23765052
Autor:
Chen Hong, Bernhard Horsthemke, Manfred F. Rajewsky, Dieter F. Hülser, Roland Frötschl, Sabine Griegel, Valerie Greger
Retinoblastoma (RB), an intraocular childhood tumor occurring in a hereditary (mostly bilateral) or non-hereditary (unilateral) form, is associated with the inactivation of both alleles of a putative tumor suppressor gene (RB-I) located on chromosome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::157937c97e02e70d42cd81783da8897f
Publikováno v:
Human Molecular Genetics. 2:921-924
The majority of cases of the two distinct disorders Prader-Willi syndrome (PWS) and Angelman syndrome (AS) result from cytogenetic deletions of chromosome 15q11-q13. These deletions are exclusively of maternal origin in AS but of paternal origin in P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3a44e9a05635933a2f99f1fa7943fec
https://doi.org/10.1093/hmg/2.7.921
https://doi.org/10.1093/hmg/2.7.921
Autor:
Kai Kloss, Wolfgang Höpping, Eberhard Passarge, Bernhard Horsthemke, Valerie Greger, Elmar P. Messmer, Henning Fritze, Petra Währisch
Publikováno v:
American Journal of Medical Genetics. 39:196-200
DNA samples from 92 unrelated patients with bilateral retinoblastoma were analyzed by Southern blot hybridization with cDNA and genomic clones of the retinoblastoma (RB-1) gene. Qualitative and quantitative evaluation of the Southern blot patterns sh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae99a3b4a27cb49e6e4140ca7f18a95
https://doi.org/10.1002/ajmg.1320390215
https://doi.org/10.1002/ajmg.1320390215
Autor:
Thomas Hürter, Valerie Greger, Eberhard Passarge, Bernhard Horsthemke, Peter Schirmacher, Antje Bornemann, Jürgen Bohl
Publikováno v:
Cancer. 66:1954-1959
Retinoblastoma tumor formation is initiated by the loss of function of both alleles of the RB-1 gene on chromosome 13. Patients with the hereditary form of retinoblastoma carry a germ line mutation at one of the two homologous gene loci in all cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c451210f0329db92c4650b1f51a6fc25
https://doi.org/10.1002/1097-0142(19901101)66:9<1954::aid-cncr2820660918>3.0.co
https://doi.org/10.1002/1097-0142(19901101)66:9<1954::aid-cncr2820660918>3.0.co