Search Results - "Fox, Joyce E" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

by Coucke, Paul J, Willaert, Andy, Wessels, Marja W, Callewaert, Bert, Zoppi, Nicoletta, De Backer, Julie, Fox, Joyce E, Mancini, Grazia M S, Kambouris, Marios, Gardella, Rita, Facchetti, Fabio, Willems, Patrick J, Forsyth, Ramses, Dietz, Harry C, Barlati, Sergio, Colombi, Marina, Loeys, Bart, De Paepe, Anne
Published in Nature genetics (01.04.2006)

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Journal Article

Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

Genotype-phenotype analysis of 4q deletion syndrome: Proposal of a critical region

by Strehle, Eugen-Matthias, Yu, Linbo, Rosenfeld, Jill A., Donkervoort, Sandra, Zhou, Yulin, Chen, Tian-Jian, Martinez, Jose E., Fan, Yao-Shan, Barbouth, Deborah, Zhu, Hongbo, Vaglio, Alicia, Smith, Rosemarie, Stevens, Cathy A., Curry, Cynthia J., Ladda, Roger L., Fan, Zheng (Jane), Fox, Joyce E., Martin, Judith A., Abdel-Hamid, Hoda Z., McCracken, Elizabeth A., McGillivray, Barbara C., Masser-Frye, Diane, Huang, Taosheng
Published in American journal of medical genetics. Part A (01.09.2012)

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First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient

by Fox, Joyce E., Volpe, Linda, Bullaro, Josephine, Kakkis, Emil D., Sly, William S.
Published in Molecular genetics and metabolism (01.02.2015)

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Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

Prevention of Leber congenital amaurosis through preimplantation genetic diagnosis

by Kodsi, Sylvia R., Bristow, Sara L., Fox, Joyce E., Hershlag, Avner
Published in Journal of AAPOS (01.06.2018)

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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

by Rosenfeld, Jill A., Fox, Joyce E., Descartes, Maria, Brewer, Fallon, Stroud, Tracy, Gorski, Jerome L., Upton, Sheila J., Moeschler, John B., Monteleone, Berrin, Neill, Nicholas J., Lamb, Allen N., Ballif, Blake C., Shaffer, Lisa G., Ravnan, J. Britt
Published in American journal of medical genetics. Part A (01.02.2015)

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Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

by Zaslav, Ann‐Leslie, Pierno, Guy, Fougner, Arthur, Jacob, Jessy, Shikora, Geraldine, Kazi, Rehana, Blumenthal, Donna, Alexander, Fakhry, Fox, Joyce E.
Published in American journal of medical genetics. Part A (01.05.2004)

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Recombinant human β-glucuronidase enzyme replacement therapy for mucopolysaccharidosis type VII: report of the first patient treated

Recombinant human β-glucuronidase enzyme replacement therapy for mucopolysaccharidosis type VII: report of the first patient treated

by Fox, Joyce E., Kakkis, Emil D., Sly, William S.
Published in Molecular genetics and metabolism (01.02.2014)

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Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22years

Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22years

by Bernstein, Donna L., Edelman, Morris, Alexis, Claudine, Bialer, Martin G., Levine, Jeremiah, Fox, Joyce E., Desnick, Robert J.
Published in Molecular genetics and metabolism (01.02.2014)

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Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22 years

Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22 years

by Bernstein, Donna L., Edelman, Morris, Alexis, Claudine, Bialer, Martin G., Levine, Jeremiah, Fox, Joyce E., Desnick, Robert J.
Published in Molecular genetics and metabolism (01.02.2014)

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Journal Article

Prenatal diagnosis of trisomy 4 mosaicism

Prenatal diagnosis of trisomy 4 mosaicism

by Zaslav, A L, Blumenthal, D, Willner, J P, Pierno, G, Jacob, J, Fox, J E
Published in American journal of medical genetics (11.12.2000)

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Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and cause arterial tortuosity syndrome

Mutations in the facilitative glucose transporter GLUT 10 alter angiogenesis and cause arterial tortuosity syndrome

by COUCKE, Paul J, WILLAERT, Andy, FACCHETTI, Fabio, WILLEMS, Patrick J, FORSYTH, Ramses, DIETZ, Harry C, BARLATI, Sergio, COLOMBI, Marina, LOEYS, Bart, DE PAEPE, Anne, WESSELS, Marja W, CALLEWAERT, Bert, ZOPPI, Nicoletta, DE BACKER, Julie, FOX, Joyce E, MANCINI, Grazia M. S, KAMBOURIS, Marios, GARDELLA, Rita
Published in Nature genetics (2006)

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Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs

Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs

by Heimler, A, Fox, J E, Hershey, J E, Crespi, P
Published in American journal of medical genetics (01.05.1991)

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Cytogenetic analysis of tissues from patients with familial paragangliomas of the head and neck

Cytogenetic analysis of tissues from patients with familial paragangliomas of the head and neck

by Zaslav, A L, Myssiorek, D, Mucia, C, Fox, J E
Published in Head & neck (01.03.1995)

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Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

Prenatal diagnosis of a rare inherited heterochromatic variant chromosome 4

by Zaslav, Ann-Leslie, Pierno, Guy, Fougner, Arthur, Jacob, Jessy, Shikora, Geraldine, Kazi, Rehana, Blumenthal, Donna, Alexander, Fakhry, Fox, Joyce E.
Published in American Journal of Medical Genetics Part A (01.05.2004)

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Trisomy 18 with Cantrell pentalogy in a stillborn infant

Trisomy 18 with Cantrell pentalogy in a stillborn infant

by Fox, J E, Gloster, E S, Mirchandani, R
Published in American journal of medical genetics (01.10.1988)

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Infant with mos45,x/46,XY/47,XYY/48,XYYY: genetic and clinical findings

Infant with mos45,x/46,XY/47,XYY/48,XYYY: genetic and clinical findings

by Fox, J E, Blumenthal, D, Brock, W, Kreitzer, P, Cooper, R, Anderson, D, Pleak, R, Ehrenfreund, L, Freedman, S, Zaslav, A L
Published in American journal of medical genetics (04.12.1995)

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