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Ellen Sidransky

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Emerson Maniwang; Nahid Tayebi; Ellen Sidransky
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data.
Hamid Saranjam; Ellen Sidransky; Barbara K Stubblefield; Hagit Baris; Sameer S Chopra; Ian J Cohen; Harvey Levy; Emerson Maniwang; Nahid Tayebi
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
Ellen Sidransky; Grisel Lopez
The link between the GBA gene and parkinsonism.

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All Publications

2013: Emerson Maniwang; Nahid Tayebi; Ellen Sidransky
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: challenges in interpreting association data.
Molecular genetics and metabolism 2013;108(4):269-71.
2013: Hamid Saranjam; Ellen Sidransky; Barbara K Stubblefield; Hagit Baris; Sameer S Chopra; Ian J Cohen; Harvey Levy; Emerson Maniwang; Nahid Tayebi
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
European journal of human genetics : EJHG 2013;21(1):115-7.
2012: Ellen Sidransky; Grisel Lopez
The link between the GBA gene and parkinsonism.
Lancet neurology 2012;11(11):986-98.
2012: Ellen Sidransky
Gaucher disease: insights from a rare Mendelian disorder.
Discovery medicine 2012;14(77):273-81.
2012: Ozlem Goker-Alpan; Catherine Groden; Angela Ianni; Philip D Kohn; Grisel Lopez; Emerson D Maniwang; Joseph C Masdeu; Ellen Sidransky; Edythe A Wiggs; Molly C Chapman; Brett Cropp; Joie Davis; Daniel P Eisenberg; Karen F Berman
The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow.
Brain : a journal of neurology 2012;135(Pt 8):2440-8.
2012: H R Saranjam; Ellen Sidransky; A Zimran; W Z Levine; D Elstein
Mandibular and dental manifestations of Gaucher disease.
Oral diseases 2012;18(5):421-9.
2012: Ehud Goldin; Juan Marugan; Omid Motabar; Christopher P Austin; Jae Hyuk Choi; Noel Southall; Wei Zheng; Ellen Sidransky
High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase.
PloS one 2012;7(1):e29861.
2011: Aegean Chan; Debra Crumrine; Peter M Elias; Tajh Ferguson; Edward I Ginns; Ozlem Goker-Alpan; Walter M Holleran; Raphael Schiffmann; Nahid Tayebi; Ellen Sidransky
Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications.
Molecular genetics and metabolism 2011;104(4):631-6.
2011: Ian M Oppenheim; Charles S Resnik; William Barcenas; Astrid Medina Canon; Ozlem Goker-Alpan; Catherine Groden; Ellen Sidransky
Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.
Skeletal radiology 2011;40(12):1611-5.
2011: Arash Velayati; Wendy Westbroek; Barbara K Stubblefield; Nahid Tayebi; Jae H Choi; John DePaolo; Ozlem Goker-Alpan; Ehud Goldin; Nidhi Gupta; Edwin Kolodny; Nima Moaven; Ellen Sidransky
A mutation in SCARB2 is a modifier in Gaucher disease.
Human mutation 2011;32(11):1232-8.
2011: Jae Hyuk Choi; Mark R Cookson; Ehud Goldin; Barbara K Stubblefield; Nahid Tayebi; Arash Velayati; Ellen Sidransky
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.
Molecular genetics and metabolism 2011;104(1-2):185-8.
2011: Wendy Westbroek; Ann Marie Gustafson; Ellen Sidransky
Exploring the link between glucocerebrosidase mutations and parkinsonism.
Trends in molecular medicine 2011;17(9):485-93.
2011: Arash Velayati; Melanie A Knight; Ellen Sidransky; Barbara K Stubblefield; Nahid Tayebi
Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease.
The Journal of molecular diagnostics : JMD 2011;13(4):401-5.
2011: Juan J Marugan; Wei Zheng; Omid Motabar; Noel Southall; Ehud Goldin; Wendy Westbroek; Barbara K Stubblefield; Ellen Sidransky; Ronald A Aungst; Wendy A Lea; Anton Simeonov; William Leister; Christopher P Austin
Evaluation of quinazoline analogues as glucocerebrosidase inhibitors with chaperone activity.
Journal of medicinal chemistry 2011;54(4):1033-58.
2011: N Gupta; I M Oppenheim; E F Kauvar; Nahid Tayebi; Ellen Sidransky
Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
Blood cells, molecules & diseases 2011;46(1):75-84.
2010: Ozlem Goker-Alpan; Barbara K Stubblefield; Benoit I Giasson; Ellen Sidransky
Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.
Acta neuropathologica 2010;120(5):641-9.
2010: Orna Staretz-Chacham; Jae Hyuk Choi; Kazuyo Wakabayashi; Grisel Lopez; Ellen Sidransky
Psychiatric and behavioral manifestations of lysosomal storage disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(7):1253-65.
2010: Grisel Lopez; Ellen Sidransky
Autosomal recessive mutations in the development of Parkinson's disease.
Biomarkers in medicine 2010;4(5):713-21.
2010: Arash Velayati; W Haung Yu; Ellen Sidransky
The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.
Current neurology and neuroscience reports 2010;10(3):190-8.
2010: Juan J Marugan; Wei Zheng; Omid Motabar; Noel Southall; Ehud Goldin; Ellen Sidransky; Ronald A Aungst; Ke Liu; Subir Kumar Sadhukhan; Christopher P Austin
Evaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.
European journal of medicinal chemistry 2010;45(5):1880-97.
2010: Jae Hyuk Choi; Arash Velayati; Barbara K Stubblefield; Avi Orr-Urtreger; Ziv Gan-Or; Nahid Tayebi; Ellen Sidransky
False-positive results using a Gaucher diagnostic kit--RecTL and N370S.
Molecular genetics and metabolism 2010;100(1):100-2.
2010: Yotam N Blech-Hermoni; Shira G Ziegler; Kathleen S Hruska; Barbara K Stubblefield; Mary E LaMarca; Matthew E Portnoy; Eric D Green; Ellen Sidransky
In silico and functional studies of the regulation of the glucocerebrosidase gene.
Molecular genetics and metabolism 2010;99(3):275-82.
2010: Omid Motabar; Ellen Sidransky; Ehud Goldin; Wei Zheng
Fabry disease - current treatment and new drug development.
Current chemical genomics 2010;4():50-6.
2009: John DePaolo; Ozlem Goker-Alpan; Ted Samaddar; Grisel Lopez; Ellen Sidransky
The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2009;24(11):1571-8.
2009: Omid Motabar; Zhen-Dan Shi; Ehud Goldin; Ke Liu; Noel Southall; Ellen Sidransky; Christopher P Austin; Gary L Griffiths; Wei Zheng
A new resorufin-based alpha-glucosidase assay for high-throughput screening.
Analytical biochemistry 2009;390(1):79-84.
2009: Orna Staretz-Chacham; Tess C Lang; Mary E LaMarca; Donna Krasnewich; Ellen Sidransky
Lysosomal storage disorders in the newborn.
Pediatrics 2009;123(4):1191-207.
2009: Ellen Sidransky; Gregory M Pastores; Motomi Mori
Dosing enzyme replacement therapy for Gaucher disease: older, but are we wiser?
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(2):90-1.
2008: Ozlem Goker-Alpan; Grisel Lopez; Joseph Vithayathil; Joie Davis; Mark Hallett; Ellen Sidransky
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
Archives of neurology 2008;65(10):1353-7.
2008: Ozlem Goker-Alpan; Edythe A Wiggs; Michael J Eblan; William Benko; Shira G Ziegler; Ellen Sidransky; Raphael Schiffmann
Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.
The Journal of pediatrics 2008;153(1):89-94.
2008: Kathleen S Hruska; Mary E LaMarca; C Ronald Scott; Ellen Sidransky
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Human mutation 2008;29(5):567-83.
2008: Ozlem Goker-Alpan; Ellen Sidransky
Treating patients with Gaucher disease and parkinsonism: misrepresentation in a title.
Parkinsonism & related disorders 2008;14(1):81-2; author reply 83.
2007: Wenwei Huang; Wei Zheng; Daniel J Urban; James Inglese; Ellen Sidransky; Christopher P Austin; Craig J Thomas
N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher disease.
Bioorganic & medicinal chemistry letters 2007;17(21):5783-9.
2007: Wei Zheng; Janak Padia; Daniel J Urban; Ajit Jadhav; Ozlem Goker-Alpan; Anton Simeonov; Ehud Goldin; Douglas S Auld; Mary E LaMarca; James Inglese; Christopher P Austin; Ellen Sidransky
Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(32):13192-7.
2007: Shira G Ziegler; Michael J Eblan; Usha Gutti; Kathleen S Hruska; Barbara K Stubblefield; Ozlem Goker-Alpan; Mary E LaMarca; Ellen Sidransky
Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease.
Molecular genetics and metabolism 2007;91(2):195-200.
2007: Ellen Sidransky; Mary E LaMarca; Edward I Ginns
Therapy for Gaucher disease: don't stop thinking about tomorrow.
Molecular genetics and metabolism 2007;90(2):122-5.
2006: Ellen Sidransky
Heterozygosity for a Mendelian disorder as a risk factor for complex disease.
Clinical genetics 2006;70(4):275-82.
2006: Ozlem Goker-Alpan; Benoit I Giasson; Michael J Eblan; J Nguyen; Howard I Hurtig; Virginia M-Y Lee; John Q Trojanowski; Ellen Sidransky
Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.
Neurology 2006;67(5):908-10.
2006: Michael J Eblan; Sonja Scholz; Barbara K Stubblefield; Usha Gutti; Ozlem Goker-Alpan; Kathleen S Hruska; Andrew Singleton; Ellen Sidransky
Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.
Neuroscience letters 2006;404(1-2):163-5.
2006: Walter M Holleran; Shira G Ziegler; Ozlem Goker-Alpan; Michael J Eblan; P M Elias; Raphael Schiffmann; Ellen Sidransky
Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease.
Clinical genetics 2006;69(4):355-7.
2006: Michael J Eblan; Joann Nguyen; Shira G Ziegler; Alicia Lwin; Melissa Hanson; Marisol Gallardo; Roberto Weiser; Marisel De Lucca; Andrew Singleton; Ellen Sidransky
Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.
Movement disorders : official journal of the Movement Disorder Society 2006;21(2):282-3.
2006: Kathleen S Hruska; Ozlem Goker-Alpan; Ellen Sidransky
Gaucher disease and the synucleinopathies.
Journal of biomedicine & biotechnology 2006;2006(3):78549.
2005: Laurence Kowarz; Ozlem Goker-Alpan; Sharmila Banerjee-Basu; Mary E LaMarca; Leah Kinlaw; Raphael Schiffmann; Andreas D Baxevanis; Ellen Sidransky
Gaucher mutation N188S is associated with myoclonic epilepsy.
Human mutation 2005;26(3):271-3; author reply 274-5.
2005: Michael J Eblan; Ozlem Goker-Alpan; Ellen Sidransky
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
Fetal and pediatric pathology 2005;24(4-5):205-22.
2005: Ozlem Goker-Alpan; Kathleen S Hruska; Eduard Orvisky; P S Kishnani; Barbara K Stubblefield; Raphael Schiffmann; Ellen Sidransky
Divergent phenotypes in Gaucher disease implicate the role of modifiers.
Journal of medical genetics 2005;42(6):e37.
2005: Aaron J Bobb; Anjene Addington; Ellen Sidransky; Michele C Gornick; Jason P Lerch; Deanna Greenstein; Liv S Clasen; Wendy S Sharp; Gale Inoff-Germain; Fabienne Wavrant-De Vrièze; Mauricio Arcos-Burgos; Richard E Straub; John Hardy; F Xavier Castellanos; Judy Rapoport
Support for association between ADHD and two candidate genes: NET1 and DRD1.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;134B(1):67-72.
2005: Ellen Sidransky
Gaucher disease and parkinsonism.
Molecular genetics and metabolism 2005;84(4):302-4.
2005: Michael J Eblan; Jamie M Walker; Ellen Sidransky
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
The New England journal of medicine 2005;352(7):728-31; author reply 728-31.
2004: Ozlem Goker-Alpan; Raphael Schiffmann; Mary E LaMarca; Robert L Nussbaum; Aideen McInerney-Leo; Ellen Sidransky
Parkinsonism among Gaucher disease carriers.
Journal of medical genetics 2004;41(12):937-40.
2004: Kondi Wong; Ellen Sidransky; Ajay Verma; Tonghui Mixon; Glenn D Sandberg; Laura K Wakefield; AL Morrison; Alicia Lwin; Carlos Colegial; John M Allman; Raphael Schiffmann
Neuropathology provides clues to the pathophysiology of Gaucher disease.
Molecular genetics and metabolism 2004;82(3):192-207.
2004: Mary E LaMarca; Mona Goldstein; Nahid Tayebi; Mauricio Arcos-Burgos; Brian M Martin; Ellen Sidransky
A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.
Journal of human genetics 2004;49(4):220-2.
2004: Alicia Lwin; Eduard Orvisky; Ozlem Goker-Alpan; Mary E LaMarca; Ellen Sidransky
Glucocerebrosidase mutations in subjects with parkinsonism.
Molecular genetics and metabolism 2004;81(1):70-3.
2003: Ozlem Goker-Alpan; Raphael Schiffmann; Joseph Park; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky
Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.
The Journal of pediatrics 2003;143(2):273-6.
2003: Bruno Bembi; Sandro Zambito-Marsala; Ellen Sidransky; Giovanni Ciana; M Carrozzi; Marino Zorzon; Cristina Martini; Manuela Gioulis; Maria Gabriela Pittis; Livio Capus
Gaucher's disease with Parkinson's disease: clinical and pathological aspects.
Neurology 2003;61(1):99-101.
2003: Nahid Tayebi; J Walker; Barbara K Stubblefield; Eduard Orvisky; Mary E LaMarca; K Wong; Hanna Rosenbaum; Raphael Schiffmann; Bruno Bembi; Ellen Sidransky
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Molecular genetics and metabolism 2003;79(2):104-9.
2003: Eduard Orvisky; Barbara K Stubblefield; Robert T Long; Brian M Martin; Ellen Sidransky; Donna Krasnewich
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.
Analytical biochemistry 2003;317(1):12-8.
2003: Jamie M Walker; Alicia Lwin; Nahid Tayebi; Mary E LaMarca; Eduard Orvisky; Ellen Sidransky
Glucocerebrosidase mutation T369M appears to be another polymorphism.
Clinical genetics 2003;63(3):237-8.
2003: Joseph Park; Eduard Orvisky; Nahid Tayebi; Christine Kaneski; Mary E LaMarca; Barbara K Stubblefield; Brian M Martin; Raphael Schiffmann; Ellen Sidransky
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Pediatric research 2003;53(3):387-95.
2003: Nahid Tayebi; Barbara K Stubblefield; Joseph Park; Eduard Orvisky; Jamie M Walker; Mary E LaMarca; Ellen Sidransky
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.
American journal of human genetics 2003;72(3):519-34.
2003: Judit Várkonyi; Hanna Rosenbaum; Nicole Baumann; Jennifer J MacKenzie; Zsuzsa Simon; Judith Aharon-Peretz; Jamie M Walker; Nahid Tayebi; Ellen Sidransky
Gaucher disease associated with parkinsonism: four further case reports.
American journal of medical genetics. Part A 2003;116A(4):348-51.
2002: Eduard Orvisky; Joseph Park; Mary E LaMarca; Edward I Ginns; Brian M Martin; Nahid Tayebi; Ellen Sidransky
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
Molecular genetics and metabolism 2002;76(4):262-70.
2002: Theresa M Bastain; Caroline M Lewczyk; Wendy S Sharp; Regina S James; Robert T Long; Patricia B Eagen; Christen L Ebens; Jeanne M Meck; Wai-Yee Chan; Ellen Sidransky; Judy Rapoport; F Xavier Castellanos
Cytogenetic abnormalities in attention-deficit/hyperactivity disorder.
Journal of the American Academy of Child and Adolescent Psychiatry 2002;41(7):806-10.
2002: Eduard Orvisky; Joseph Park; A Parker; Jamie M Walker; Brian M Martin; Barbara K Stubblefield; E Uyama; Nahid Tayebi; Ellen Sidransky
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
Human mutation 2002;19(4):458-9.
2002: Nahid Tayebi; David Q Andrews; Joseph Park; Eduard Orvisky; John S McReynolds; Ellen Sidransky; Donna Krasnewich
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.
American journal of medical genetics 2002;108(3):241-6.
2002: Hanna Rosenbaum; Ellen Sidransky
Cholelithiasis in patients with Gaucher disease.
Blood cells, molecules & diseases 2002;28(1):21-7.
2002: Joseph Park; Nahid Tayebi; Barbara K Stubblefield; Mary E LaMarca; J J MacKenzie; DL Stone; Ellen Sidransky
The E326K mutation and Gaucher disease: mutation or polymorphism?
Clinical genetics 2002;61(1):32-4.
2001: Nahid Tayebi; M Callahan; V Madike; Barbara K Stubblefield; Eduard Orvisky; Donna Krasnewich; J J Fillano; Ellen Sidransky
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization.
Molecular genetics and metabolism 2001;73(4):313-21.
2001: Joseph Park; V Koprivica; D Q Andrews; V Madike; Nahid Tayebi; DL Stone; Ellen Sidransky
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease.
American journal of medical genetics 2001;99(2):147-51.
2000: W L Yan; X Y Guan; Eric Green; Rob Nicolson; T K Yap; J Zhang; Leslie K Jacobsen; Donna Krasnewich; Sanjiv Kumra; Marge Lenane; Peter Gochman; Patricia Damschroder-Williams; LE Esterling; Robert T Long; Brian M Martin; Ellen Sidransky; Judy Rapoport; Edward I Ginns
Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: identification of a BAC contig spanning the translocation breakpoint at 7q21.
American journal of medical genetics 2000;96(6):749-53.
2000: Yoshikazu Uchida; Mariko Hara; H Nishio; Ellen Sidransky; S Inoue; F Otsuka; A Suzuki; Peter M Elias; Walter M Holleran; S Hamanaka
Epidermal sphingomyelins are precursors for selected stratum corneum ceramides.
Journal of lipid research 2000;41(12):2071-82.
2000: DL Stone; Nahid Tayebi; C Coble; Edward I Ginns; Ellen Sidransky
Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease.
Journal of medical genetics 2000;37(11):E40.
2000: Nahid Tayebi; Joseph Park; V Madike; Ellen Sidransky
Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.
Human genetics 2000;107(4):400-3.
2000: Eduard Orvisky; Ellen Sidransky; CE McKinney; Mary E LaMarca; R Samimi; Donna Krasnewich; Brian M Martin; Edward I Ginns
Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation.
Pediatric research 2000;48(2):233-7.
2000: DL Stone; Edward I Ginns; Donna Krasnewich; Ellen Sidransky
Life-threatening splenic hemorrhage in two patients with Gaucher disease.
American journal of hematology 2000;64(2):140-2.
2000: V Koprivica; DL Stone; Joseph Park; M Callahan; A Frisch; Ian Cohen; Nahid Tayebi; Ellen Sidransky
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
American journal of human genetics 2000;66(6):1777-86.
2000: DL Stone; W F Carey; J Christodoulou; D Sillence; P Nelson; M Callahan; Nahid Tayebi; Ellen Sidransky
Type 2 Gaucher disease: the collodion baby phenotype revisited.
Archives of disease in childhood. Fetal and neonatal edition 2000;82(2):F163-6.
2000: DL Stone; Nahid Tayebi; Eduard Orvisky; Barbara K Stubblefield; V Madike; Ellen Sidransky
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Human mutation 2000;15(2):181-8.
1999: Nahid Tayebi; DL Stone; Ellen Sidransky
Type 2 gaucher disease: an expanding phenotype.
Molecular genetics and metabolism 1999;68(2):209-19.
1999: DL Stone; Otto P van Diggelen; J B de Klerk; J L Gaillard; M F Niermeijer; R Willemsen; Nahid Tayebi; Ellen Sidransky
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
European journal of human genetics : EJHG 1999;7(4):505-9.
1999: Thomas V Fernandez; W L Yan; SD Hamburger; Judy Rapoport; Ann M Saunders; Mark B Schapiro; Edward I Ginns; Ellen Sidransky
Apolipoprotein E alleles in childhood-onset schizophrenia.
American journal of medical genetics 1999;88(2):211-3.
1999: EK Lau; Nahid Tayebi; Loring Ingraham; SL Winfield; V Koprivica; DL Stone; A Zimran; Edward I Ginns; Ellen Sidransky
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
Human genetics 1999;104(4):293-300.
1999: DL Stone; Ellen Sidransky
Hydrops fetalis: lysosomal storage disorders in extremis.
Advances in pediatrics 1999;46():409-40.
1998: F Xavier Castellanos; E Lau; Nahid Tayebi; P Lee; R E Long; Jay Giedd; Wendy S Sharp; WL Marsh; James M Walter; SD Hamburger; Edward I Ginns; Judy Rapoport; Ellen Sidransky
Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analyses.
Molecular psychiatry 1998;3(5):431-4.
1998: Catherine E Burgess; Kerstin Lindblad; Ellen Sidransky; Qiu-Ping Yuan; Robert T Long; TS Breschel; Christopher A Ross; Melvin G McInnis; P Lee; Edward I Ginns; Marge Lenane; Sanjiv Kumra; Leslie Jacobsen; Judy Rapoport; Martin Schalling
Large CAG/CTG repeats are associated with childhood-onset schizophrenia.
Molecular psychiatry 1998;3(4):321-7.
1998: Ellen Sidransky; C Burgess; T Ikeuchi; Kerstin Lindblad; Robert T Long; Robert A Philibert; Judy Rapoport; Martin Schalling; S Tsuji; Edward I Ginns
A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion-detection technique.
American journal of human genetics 1998;62(6):1548-51.
1998: Leslie K Jacobsen; BB Mittleman; Sanjiv Kumra; Marge Lenane; K C Barracchini; S Adams; TB Simonis; P R Lee; Robert T Long; Wendy S Sharp; Ellen Sidransky; Edward I Ginns; Judy Rapoport
HLA antigens in childhood onset schizophrenia.
Psychiatry research 1998;78(3):123-32.
1998: Nahid Tayebi; K J Reissner; EK Lau; Barbara K Stubblefield; A C Klineburgess; Brian M Martin; Ellen Sidransky
Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
Pediatric research 1998;43(5):571-8.
1998: Donna Krasnewich; K Dietrich; L Bauer; Edward I Ginns; Ellen Sidransky; S Hill
Splenectomy in Gaucher disease: new management dilemmas.
Blood 1998;91(8):3085-7.
1998: K Reissner; Nahid Tayebi; Barbara K Stubblefield; V Koprivica; Miriam G Blitzer; Walter M Holleran; T Cowan; S Almashanu; A Maddalena; E M Karson; Ellen Sidransky
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
Molecular genetics and metabolism 1998;63(4):281-8.
1998: W Yan; Leslie K Jacobsen; Donna Krasnewich; X Y Guan; Marge Lenane; S P Paul; H N Dalwadi; Heping Zhang; Robert T Long; Sanjiv Kumra; Brian M Martin; P J Scambler; Jeffrey M. Trent; Ellen Sidransky; Edward I Ginns; Judy Rapoport
Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".
American journal of medical genetics 1998;81(1):41-3.
1997: Ellen Sidransky; Edward I Ginns
Gaucher's disease: the best laid schemes of mice and men.
Baillière's clinical haematology 1997;10(4):725-37.
1997: Nahid Tayebi; S R Cushner; W Kleijer; EK Lau; Patricia Damschroder-Williams; Barbara K Stubblefield; J Den Hollander; Ellen Sidransky
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
American journal of medical genetics 1997;73(1):41-7.
1997: Ellen Sidransky; Edward I Ginns
Gaucher disease plus.
Journal of medical genetics 1997;34(10):876-7.
1997: SL Winfield; Nahid Tayebi; Brian M Martin; Edward I Ginns; Ellen Sidransky
Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.
Genome research 1997;7(10):1020-6.
1997: Ellen Sidransky
New perspectives in type 2 Gaucher disease.
Advances in pediatrics 1997;44():73-107.
1996: Nahid Tayebi; H Stern; I Dymarskaia; J Herman; Ellen Sidransky
55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles.
American journal of medical genetics 1996;66(3):316-9.
1996: Nahid Tayebi; S Cushner; Ellen Sidransky
Differentiation of the glucocerebrosidase gene from pseudogene by long-template PCR: implications for Gaucher disease.
American journal of human genetics 1996;59(3):740-1.
1996: Nahid Tayebi; J Herman; Edward I Ginns; Ellen Sidransky
Genotype D399N/R463C in a patient with type 3 Gaucher disease previously assigned genotype N370S/R463C.
Biochemical and molecular medicine 1996;57(2):149-51.
1996: Ellen Sidransky; Nahid Tayebi; Barbara K Stubblefield; W Eliason; A Klineburgess; G P Pizzolato; J N Cox; J Porta; Armand Bottani; Celia Delozier-Blanchet
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.
Journal of medical genetics 1996;33(2):132-6.
1996: Ellen Sidransky; Manige Fartasch; R E Lee; L A Metlay; S Abella; A Zimran; W Gao; P M Elias; Edward I Ginns; Walter M Holleran
Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.
Pediatric research 1996;39(1):134-41.
1995: A Fujimoto; Nahid Tayebi; Ellen Sidransky
Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.
American journal of medical genetics 1995;59(3):356-8.
1995: Ellen Sidransky; Nahid Tayebi; Edward I Ginns
Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling.
Clinical pediatrics 1995;34(7):365-71.
1995: Rob Willemsen; V Tybulewicz; Ellen Sidransky; W K Eliason; Brian M Martin; Mary E LaMarca; Arnold J J Reuser; M Tremblay; H Westphal; R C Mulligan
A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse.
Molecular and chemical neuropathology / sponsored by the International Society for Neurochemistry and the World Federation of Neurology and research groups on neurochemistry and cerebrospinal fluid 1995;24(2-3):179-92.
1994: Walter M Holleran; E I Ginns; G K Menon; J U Grundmann; Manige Fartasch; C E McKinney; Peter M Elias; Ellen Sidransky
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease.
The Journal of clinical investigation 1994;93(4):1756-64.
1994: Ellen Sidransky; A Bottler; Barbara K Stubblefield; Edward I Ginns
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
Human mutation 1994;3(1):25-8.
1993: Ellen Sidransky; Barbara K Stubblefield
Dried umbilical cords as a source of DNA for genetic studies.
BioTechniques 1993;15(1):30.
1993: Ellen Sidransky; Edward I Ginns
Clinical heterogeneity among patients with Gaucher's disease.
JAMA : the journal of the American Medical Association 1993;269(9):1154-7.
1992: Ellen Sidransky; D M Sherer; Edward I Ginns
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene.
Pediatric research 1992;32(4):494-8.
1992: V L Tybulewicz; Michel L Tremblay; Mary E LaMarca; Rob Willemsen; Barbara K Stubblefield; SL Winfield; B Zablocka; Ellen Sidransky; Brian M Martin; S P Huang
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
Nature 1992;357(6377):407-10.
1992: Ellen Sidransky; S Tsuji; Brian M Martin; Barbara K Stubblefield; Edward I Ginns
DNA mutation analysis of Gaucher patients.
American journal of medical genetics 1992;42(3):331-6.
1992: Ellen Sidransky; S Tsuji; Barbara K Stubblefield; J Currie; E J FitzGibbon; Edward I Ginns
Gaucher patients with oculomotor abnormalities do not have a unique genotype.
Clinical genetics 1992;41(1):1-5.
1989: Brian M Martin; Ellen Sidransky; Edward I Ginns
Gaucher's disease: advances and challenges.
Advances in pediatrics 1989;36():277-306.