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1
A Caucasian Family with the 3271 Mutation in Mitochondrial DNA
A Caucasian Family with the 3271 Mutation in Mitochondrial DNA
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A Caucasian Family with the 3271 Mutation in Mitochondrial DNA

Marie, S.K.N. ; Goto, Y. ; Passosbueno, M.R. ; Zatz, M. ; Carvalho, A.A.S. ; Carvalho, M. ; Levy, J.A. ; Palou, V.B. ; Campiotto, S. ; Horai, S. ; Nonaka, I.

Biochemical medicine and metabolic biology, 1994-08, Vol.52 (2), p.136-139

Boston, MA: Elsevier Inc

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2
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases
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A family with McLeod syndrome and calpainopathy with clinically overlapping diseases

STARLING, A ; SCHLESINGER, D ; KOK, F ; PASSOS-BUENO, M. Rita ; VAINZOF, M ; ZATZ, M

Neurology, 2005-12, Vol.65 (11), p.1832-1833 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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3
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
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A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies

Moreira, E S ; Vainzof, M ; Marie, S K ; Nigro, V ; Zatz, M ; Passos-Bueno, M R

Journal of medical genetics, 1998-11, Vol.35 (11), p.951-953 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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4
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
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A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

Bushby, Kate ; Bashir, Rumaisa ; Britton, Stephen ; Strachan, Tom ; Keers, Sharon ; Vafiadaki, Elizabeth ; Lako, Majlinda ; Richard, Isabelle ; Marchand, Sylvie ; Bourg, Nathalie ; Argov, Zohar ; Sadeh, Menachem ; Mahjneh, Ibrahim ; Marconi, Giampiero ; Passos-Bueno, Maria Rita ; Moreira, Eloisa de S ; Zatz, Mayana ; Beckmann, Jacques S

Nature genetics, 1998-09, Vol.20 (1), p.37-42 [Periódico revisado por pares]

London: Nature Publishing Group

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5
A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3
A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3
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A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3

Sertié, A. L. ; Quimby, M. ; Moreira, E. S. ; Murray, J. ; Zatz, M. ; Antonarakis, S. E. ; Passos-Bueno, M. R.

Human molecular genetics, 1996-06, Vol.5 (6), p.843-847 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin
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Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin

Rocco, P. ; Vainzof, M. ; Froehner, S.C. ; Peters, M.F. ; Marie, S.K.N. ; Passos-Bueno, M.R. ; Zatz, M.

American journal of medical genetics, 2000-05, Vol.92 (2), p.122-127 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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7
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
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Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)

SERTIE, A. L ; SOSSI, V ; CAMARGO, A. A ; ZATZ, M ; BRAHE, C ; PASSOS-BUENO, M. R

Human molecular genetics, 2000-08, Vol.9 (13), p.2051-2058 [Periódico revisado por pares]

Oxford: Oxford University Press

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8
Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region
Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region
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Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region

Passos-Bueno, M.Rita ; Bashir, Ramaisa ; Moreira, Eloisa S. ; Vainzof, Mariz ; Marie, Suely K. ; Vasquez, Luciana ; Iughetti, Paula ; Bakker, Egbert ; Keers, Sharon ; Stephenson, Anthea ; Strachan, Tom ; Mahneh, Ibrahim ; Weissenbach, Jean ; Bushby, Katharine ; Zatz, Mayana

Genomics (San Diego, Calif.), 1995-05, Vol.27 (1), p.192-195 [Periódico revisado por pares]

San Diego, CA: Elsevier Inc

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9
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?
Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?
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Cosegregation of schizophrenia with Becker muscular dystrophy: susceptibility locus for schizophrenia at Xp21 or an effect of the dystrophin gene in the brain?

Zatz, M ; Vallada, H ; Melo, M S ; Passos-Bueno, M R ; Vieira, A H ; Vainzof, M ; Gill, M ; Gentil, V

Journal of medical genetics, 1993-02, Vol.30 (2), p.131-134 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter
Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter
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Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

Maranduba, C M C ; Friesema, E C H ; Kok, F ; Kester, M H A ; Jansen, J ; Sertié, A L ; Passos-Bueno, M R ; Visser, T J

Journal of medical genetics, 2006-05, Vol.43 (5), p.457-460 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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