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51

Telomeric sequences localization and G-banding patterns in the identification of a polymorphic chromosomal rearrangement in the rodent Akodon cursor (2n= 14,15 and 16)

Vale´ria Fagundes, Angela M. Vianna-Morgante, Yatiyo Yonenaga-Yassuda

Journal:

Chromosome Research

Year:

1997

Language:

english

File:

PDF, 664 KB

english, 1997

52

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization

Linhares, Natália D., Valadares, Eugênia R., da Costa, Silvia S., Arantes, Rodrigo R., de Oliveira, Luiz Roberto, Rosenberg, Carla, Vianna-Morgante, Angela M., Svartman, Marta

Journal:

Year:

2016

Language:

english

File:

PDF, 752 KB

english, 2016

53

Duplication of distal 17q: Report of an observation

Nadyr F. Naccache, Angela M. Vianna-Morgante, A. Richieri-Costa, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 307 KB

english, 1984

54

Partial monosomy 13 and 21 due to a familial 13/21 translocation

Priscila Guimarães Otto, Sergio Toledo, Antonio Richieri-Costa, Paulo Alberto Otto, Angela M. Vianna-Morgante, Sanae Kasahara

Journal:

Year:

1978

Language:

english

File:

PDF, 426 KB

english, 1978

55

Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B

A. C. V. Krepischi-Santos, J. D. A. Carneiro, M. Svartman, I. Bendit, V. Odone-Filho, A. M. Vianna-Morgante

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 104 KB

english, 2001

56

RB1 deletion in gonadoblastoma in an XY female

Sylvie Antonini, Angela S. Barbosa, Carla Rosenberg, Ana Carolina C. Barbosa, Carlos A. Moreira-Filho, A. M. Vianna-Morgante

Journal:

Year:

1997

Language:

english

File:

PDF, 92 KB

english, 1997

57

Comparative Genome Analysis in American Marsupials: Chromosome Banding and In-situ Hybridization

Marta Svartman, Angela M. Vianna-Morgante

Journal:

Chromosome Research

Year:

1999

Language:

english

File:

PDF, 147 KB

english, 1999

58

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Krepischi-Santos, A.C.V., Vianna-Morgante, A.M., Jehee, F.S., Passos-Bueno, M.R., Knijnenburg, J., Szuhai, K., Sloos, W., Mazzeu, J.F., Kok, F., Cheroki, C., Otto, P.A., Mingroni-Netto, R.C., Varela,

Journal:

Cytogenetic and Genome Research

Year:

2006

Language:

english

File:

PDF, 262 KB

english, 2006

59

Tetrasomy 18p: tentative delineation of a syndrome

Batista, D. A S, Vianna-Morgante, A. M, Richieri-Costa, A

Journal:

Journal of Medical Genetics

Year:

1983

Language:

english

File:

PDF, 736 KB

english, 1983

60

Fragile X-associated tremor/ataxia syndrome: Intrafamilial variability and the size of the FMR1 premutation CGG repeat

Leonardo P. Capelli, Márcia R. R. Gonçalves, Fernando Kok, Cláudia C. Leite, Ricardo Nitrini, Egberto R. Barbosa, Angela M. Vianna-Morgante

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 164 KB

english, 2007

61

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Carvalho, C. M.B., Zhang, F., Liu, P., Patel, A., Sahoo, T., Bacino, C. A., Shaw, C., Peacock, S., Pursley, A., Tavyev, Y. J., Ramocki, M. B., Nawara, M., Obersztyn, E., Vianna-Morgante, A. M., Stanki

Journal:

Human Molecular Genetics

Year:

2009

Language:

english

File:

PDF, 568 KB

english, 2009

62

An Illustrative Case of Neurofibromatosis Type 1 and NF1 Microdeletion

Praxedes, L.A., Pereira, F.M., Mazzeu, J.F., Costa, S.S., Bertola, D.R., Kim, C.A., Vianna-Morgante, A.M., Otto, P.A.

Journal:

Molecular Syndromology

Year:

2010

Language:

english

File:

PDF, 171 KB

english, 2010

63

Twinning and premature ovarian failure in premutation fragile X carriers

Vianna-Morgante, Angela M.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 31 KB

english, 1999

64

AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations

Claudia B. Angeli, Leonardo P. Capelli, Maria Teresa B.M. Auricchio, Angela M. Vianna-Morgante, Regina C. Mingroni-Netto*, Emygdia R. Leal-Mesquita, Ândrea K.C. Ribeiro-dos-Santos, Iris Ferrari, Silvi

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 30 KB

english, 2005

65

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome

Juliana Forte Mazzeu, Eliete Pardono, Angela M. Vianna-Morgante, Antônio Richieri-Costa, Chong Ae Kim, Décio Brunoni, Lúcia Martelli, Carlos Eugênio F. de Andrade, Guilherme Colin, Paulo A. Otto

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 95 KB

english, 2007

66

Replication timing of homologous α-satellite DNA in Roberts syndrome

Ana Carolina Coutinho Barbosa, Paulo A. Otto, Angela M. Vianna-Morgante

Journal:

Chromosome Research

Year:

2000

Language:

english

File:

PDF, 83 KB

english, 2000

67

Intragenic reorganization of RB1 in a complex (4;13) rearrangement demonstrated by FISH

Rosenberg, C., Janson, M., Nordeskj&ouml, ld, M., B&oslash, rresen, A.L., Vianna-Morgante, A.M.

Journal:

Cytogenetic and Genome Research

Year:

1994

File:

PDF, 864 KB

1994

68

Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X) (q27.3) in heterozygotes

Regina C. Mingroni-Netto, J. G. Fernandes, Angela M. Vianna-Morgante

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 388 KB

english, 1994

69

ATYPICAL CLINICAL COURSE OF FXTAS: RAPIDLY PROGRESSIVE DEMENTIA AS THE MAJOR SYMPTOM

M. Goncalves, L. P. Capelli, R. Nitrini, E. R. Barbosa, C. S. Porto, L. T. Lucato, A. M. Vianna-morgante

Year:

2007

Language:

english

File:

PDF, 418 KB

english, 2007

70

Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9

Ana Cristina V. Krepischi-Santos, Angela M. Vianna-Morgante

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 275 KB

english, 2003

71

AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations

Claudia B. Angeli, Leonardo P. Capelli, Maria Teresa B.M. Auricchio, Angela M. Vianna-Morgante, Regina C. Mingroni-Netto, Emygdia R. Leal-Mesquita, Ândrea K.C. Ribeiro-dos-Santos, Iris Ferrari, Silvie

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 113 KB

english, 2005

72

Conservation of Chromosomal Location of Nucleolus Organizer in American Marsupials (Didelphidae)

Marta Svartman, Angela M. Vianna-Morgante

Journal:

Year:

2003

Language:

english

File:

PDF, 163 KB

english, 2003

73

Deletion of the short arm of chromosome 20

A. M. VIANNA-MORGANTE, A. RICHIERI-COSTA, C. ROSENBERG

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 464 KB

english, 1987

74

Premature Ovarian Failure Is Associated with Maternally and Paternally Inherited Premutation in Brazilian Families with Fragile X

Angela M. Vianna-Morgante, Silvia S. Costa

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 54 KB

english, 2000

75

Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy

Haddad, Dominik M., Vilain, Sven, Vos, Melissa, Esposito, Giovanni, Matta, Samer, Kalscheuer, Vera M., Craessaerts, Katleen, Leyssen, Maarten, Nascimento, Rafaella M.P., Vianna-Morgante, Angela M., De

Journal:

Year:

2013

Language:

english

File:

PDF, 3.25 MB

english, 2013

76

Chromosome imbalances in syndromic hearing loss

ALPM Catelani, ACV Krepischi, CA Kim, F Kok, PA Otto, MTBM Auricchio, JF Mazzeu, DT Uehara, SS Costa, J Knijnenburg, A Tabith Jr, AM Vianna-Morgante, RC Mingroni-Netto, C Rosenberg

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 639 KB

english, 2009

77

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

JF Mazzeu, AM Vianna-Morgante, ACV Krepischi, A Oudakker, C Rosenberg, K Szuhai, J McGill, J MacCraughan, H Van Bokhoven, HG Brunner

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 534 KB

english, 2010

78

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy

Ana Cristina Victorino Krepischi, Jeroen Knijnenburg, Debora Romeo Bertola, Chong Ae Kim, Peter Lees Pearson, Emilia Bijlsma, Karoly Szuhai, Fernando Kok, Angela Maria Vianna-Morgante, Carla Rosenberg

Journal:

Year:

2010

Language:

english

File:

PDF, 249 KB

english, 2010

79

Duchenne muscular dystrophy in a girl with a 45, X/46, XX/47, XXX chromosome constitution

Eliete Rabbi Bortolini, Déa Martins da Silva, Rosemary Santos Chequer, Angela M. Vianna-Morgante, Mayana Zatz, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 400 KB

english, 1986

80

Identification of a supernumerary marker derived from chromosome 17 using FISH

Carla Rosenberg, Cleide L. Borovik, Rosane S. Canonaco, Laura C. Sichero, Ana Paula S. Queiroz, Angela M. Vianna-Morgante

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 275 KB

english, 1995

81

PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus–Merzbacher disease in a girl

ACS Fonseca, A Bonaldi, SS Costa, MR Freitas, F Kok, AM Vianna-Morgante

Journal:

Clinical Genetics

Year:

2012

Language:

english

File:

PDF, 929 KB

english, 2012

82

Phenotypic spectrum of 45,X/46,XY individuals

Carla Rosenberg, O. Frota-Pessoa, Angela M. Vianna-Morgante, T. H. Chu, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 363 KB

english, 1987

83

Structure and chromosomal localization of the gene for crotamine, a toxin from the South American rattlesnake, Crotalus durissus terrificus

Gandhi Rádis-Baptista, Tai Kubo, Nancy Oguiura, Marta Svartman, Therezinha M.B Almeida, Radenka F Batistic, Eduardo B Oliveira, Ângela M Vianna-Morgante, Tetsuo Yamane

Journal:

Year:

2003

Language:

english

File:

PDF, 193 KB

english, 2003

84

A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males

Luciana A. Haddad,Regina C. Mingroni-Netto,Angela M. Vianna-Morgante…

Journal:

Year:

1996

Language:

english

File:

PDF, 62 KB

english, 1996

85

Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.60 MB

english, 2014

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