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265 results on '"Otto, Paulo A."'

1. Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders

Author

Tolezano, Giovanna Cantini, Bastos, Giovanna Civitate, da Costa, Silvia Souza, Scliar, Marília de Oliveira, de Souza, Carolina Fischinger Moura, Van Der Linden Jr, Hélio, Fernandes, Walter Luiz Magalhães, Otto, Paulo Alberto, Vianna-Morgante, Angela M., Haddad, Luciana Amaral, Honjo, Rachel Sayuri, Yamamoto, Guilherme Lopes, Kim, Chong Ae, Rosenberg, Carla, Jorge, Alexander Augusto de Lima, Bertola, Débora Romeo, and Krepischi, Ana Cristina Victorino

Published
2024
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3. Phenotypic and mutational spectrum of ROR2‐related Robinow syndrome

Author

Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, and Mazzeu, Juliana F

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.

Published
2022

6. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants

Author

Bertani-Torres, William, primary, Lezirovitz, Karina, additional, Alencar-Coutinho, Danillo, additional, Pardono, Eliete, additional, da Costa, Silvia Souza, additional, Antunes, Larissa do Nascimento, additional, de Oliveira, Judite, additional, Otto, Paulo Alberto, additional, Pingault, Véronique, additional, and Mingroni-Netto, Regina Célia, additional

Published
2023
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7. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.

Author

Bertani-Torres, William, Lezirovitz, Karina, Alencar-Coutinho, Danillo, Pardono, Eliete, da Costa, Silvia Souza, Antunes, Larissa do Nascimento, de Oliveira, Judite, Otto, Paulo Alberto, Pingault, Véronique, and Mingroni-Netto, Regina Célia

Subjects
NUCLEOTIDE sequencing, HIRSCHSPRUNG'S disease, SYNDROMES, SOX transcription factors, EYE abnormalities
Abstract

Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated by the presence of dystopia canthorum in type 1 and its absence in type 2. Additionally, limb musculoskeletal abnormalities and Hirschsprung disease differentiate types 3 and 4, respectively. Genes PAX3, MITF, SOX10, KITLG, EDNRB, and EDN3 are already known to be associated with WS. In WS, a certain degree of molecularly undetected patients remains, especially in type 2. This study aims to pinpoint causative variants using different NGS approaches in a cohort of 26 Brazilian probands with possible/probable diagnosis of WS1 (8) or WS2 (18). DNA from the patients was first analyzed by exome sequencing. Seven of these families were submitted to trio analysis. For inconclusive cases, we applied a targeted NGS panel targeting WS/neurocristopathies genes. Causative variants were detected in 20 of the 26 probands analyzed, these being five in PAX3, eight in MITF, two in SOX10, four in EDNRB, and one in ACTG1 (type 2 Baraitser-Winter syndrome, BWS2). In conclusion, in our cohort of patients, the detection rate of the causative variant was 77%, confirming the superior detection power of NGS in genetically heterogeneous diseases. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Skewed X-chromosome inactivation in women with idiopathic intellectual disability as indicative of pathogenic variants

Author

Chaves, Luiza D., primary, Carvalho, Laura M. L., additional, Tolezano, Giovanna C., additional, Pires, Sara F., additional, Costa, Silvia S., additional, Scliar, Marília de O., additional, Giuliani, Liane de R., additional, Bertola, Debora R., additional, Santos-Rebouças, Cintia B., additional, Seo, Go Hun, additional, Otto, Paulo A., additional, Rosenberg, Carla, additional, Vianna-Morgante, Angela M., additional, and Krepischi, Ana Cristina Victorino, additional

Published
2022
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18. Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

Author

Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Scliar, Marília de Oliveira, Fernandes, Walter Luis Magalhães, Otto, Paulo Alberto, Bertola, Débora Romeo, Rosenberg, Carla, Vianna-Morgante, Angela Maria, and Krepischi, Ana Cristina Victorino

Subjects
variable expressivity, autism, CYP1B1, Original Article, 17p13.3 microduplication, microcephaly, DIP2B, neurodevelopmental disorder, RORA
Abstract

17p13.3 microduplications are rare copy number variations (CNVs) associated with variable phenotypes, including facial dysmorphism, developmental delay, intellectual disability, and autism. Typically, when a recognized pathogenic CNV is identified, other genetic factors are not considered. We investigated via whole-exome sequencing the presence of additional variants in four carriers of class I 17p13.3 microduplications. A 730 kb 17p13.3 microduplication was identified in two half-brothers with intellectual disability, but not in a third affected half-brother or blood cells from their normal mother (Family A), thus leading to the hypothesis of maternal germline mosaicism. No additional pathogenic variants were detected in Family A. Two affected siblings carried maternally inherited 450 kb 17p13.3 microduplication (Family B); the three carriers of the microduplication exhibited microcephaly and learning disability/speech impairment of variable degrees. Exome analysis revealed a variant of uncertain significance in RORA, a gene already linked to autism, in the autistic boy; his sister was heterozygous for a CYP1B1 pathogenic variant that could be related to her congenital glaucoma. Besides, both siblings carried a loss-of-function variant in DIP2B, a candidate gene for intellectual disability, which was inherited from their father, who also exhibited learning disability in childhood. In conclusion, additional pathogenic variants were revealed in two affected carriers of class I 17p13.3 microduplication (Family B), probably adding to their phenotypes. These results provided new evidence regarding the contribution of RORA and DIP2B to neurocognitive deficits, and highlighted the importance of full genetic investigation in carriers of CNV syndromes with variable expressivity. Finally, we suggest that microcephaly may be a rare clinical feature also related to the presence of the class I 17p13.3 microduplication.

Published
2021

19. Back Cover, Volume 43, Issue 7

Author

Lima, Ariadne R., primary, Ferreira, Barbara M., additional, Zhang, Chaofan, additional, Jolly, Angad, additional, Du, Haowei, additional, White, Janson J., additional, Dawood, Moez, additional, Lins, Tulio C., additional, Chiabai, Marcela A., additional, van Beusekom, Ellen, additional, Cordoba, Mara S., additional, Caldas Rosa, Erica C.C., additional, Kayserili, Hulya, additional, Kimonis, Virginia, additional, Wu, Erica, additional, Mellado, Cecilia, additional, Aggarwal, Vineet, additional, Richieri‐Costa, Antonio, additional, Brunoni, Décio, additional, Canó, Talyta M., additional, Jorge, Alexander A. L., additional, Kim, Chong A., additional, Honjo, Rachel, additional, Bertola, Débora R., additional, Dandalo‐Girardi, Raissa M., additional, Bayram, Yavuz, additional, Gezdirici, Alper, additional, Yilmaz‐Gulec, Elif, additional, Gumus, Evren, additional, Yilmaz, Gülay C., additional, Okamoto, Nobuhiko, additional, Ohashi, Hirofumi, additional, Coban–Akdemir, Zeynep, additional, Mitani, Tadahiro, additional, Jhangiani, Shalini N., additional, Muzny, Donna M., additional, Regattieri, Neysa A.P., additional, Pogue, Robert, additional, Pereira, Rinaldo W., additional, Otto, Paulo A., additional, Gibbs, Richard A., additional, Ali, Bassam R., additional, van Bokhoven, Hans, additional, Brunner, Han G., additional, Sutton, V. Reid, additional, Lupski, James R., additional, Vianna‐Morgante, Angela M., additional, Carvalho, Claudia M. B., additional, and Mazzeu, Juliana F., additional

Published
2022
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20. SCAF4‐related syndromic intellectual disability.

Author

Carvalho, Laura Machado Lara, Pinto, Carla Franchi, de Oliveira Scliar, Marília, Otto, Paulo A., Krepischi, Ana Cristina Victorino, and Rosenberg, Carla

Abstract

The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then, no additional cases have been reported. We performed exome sequencing in a 16‐year‐old Brazilian male presenting with ID, epilepsy, behavioral problems, speech impairment, facial dysmorphisms, heart malformations, and obesity. A de novo pathogenic variant [SCAF4(NM_020706.2):c.374_375dup(p.Glu126LeufsTer20)] was identified. This is the second study reporting the involvement of SCAF4 in syndromic ID, and the description of the patient's clinical features contributes to defining the phenotypic spectrum of this recently described Mendelian disorder. [ABSTRACT FROM AUTHOR]

Published
2023
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24. Evolution of sex-ratio: Brief review with mathematical study of some simple novel models

Author

Otto, Paulo A.

Subjects
Evolutionary Genetics, Genetics, education.field_of_study, Unusual case, Evolution of sexual reproduction, Population, Mutant allele, Mutant, evolutionary stable s.r, QH426-470, Biology, Sex-ratio (s.r.), Mutation (genetic algorithm), GENÉTICA DE POPULAÇÕES, Allele, education, Molecular Biology, extraordinary s.r, X chromosome, population genetic models
Abstract

Besides reviewing the unusual case of sex-ratio in the lemming and presenting alternative analyses of general models in which the shift in the usual sex-ratio 1:1 is determined by autosomal or sex-linked mutant alleles, three novel models are presented, in which the shift on the progeny sex-ratio depends on the number of copies of a mutant allele present in the parental pair. The analysis of these models with additive effects shows that: 1) autosomal mutations that alter the usual sex-ratio are eliminated from the population; 2) mutations occurring on the X chromosome lead to an evolutionary stable 1:1 sex-ratio only if the mutation favors the production of males; when the mutant allele favors the production of females, however, females will prevail in the population, with a frequency dependent impact on δ (the deviation from the usual 0.5 proportion) ; for most of the range of possible values of δ the stable but extraordinary sex-ratio will vary from 1 male : 1 female to 1 male : 3 females or 1 male : 2 females approximately depending whether the mutant allele is randomly inactivated or not.

Published
2021

28. UBE2A, which encodes an ubiquitin-conjugating enzyme, is mutated in novel x-linked mental retardation syndrome

Author

Nascimento, Rafaella M.P., Otto, Paulo A., de Brouwer, Arjan P.M., and Vianna-Morgante, Angela M.

Subjects
Ubiquitin -- Genetic aspects, Ubiquitin -- Research, Mental retardation -- Causes of, Mental retardation -- Research, Gene mutations -- Research, Biological sciences
Abstract

A mutation of UBE2A/HR6A, which encodes an ubiquitin-conjugating enzyme (E2), a member of the ubiquitin proteasome pathway, as the cause of a novel X-linked mental retardation (XLMR) syndrome that affects three males in a two-generation family is reported. It is observed that UBE2A mutations do not appear to significantly contribute to XLMR.

Published
2006

36. Abstracts of presentations on plant protection issues at the fifth international Mango Symposium Abstracts of presentations on plant protection issues at the Xth international congress of Virology: September 1–6, 1996 Dan Panorama Hotel, Tel Aviv, Israel August 11-16, 1996 Binyanei haoma, Jerusalem, Israel

Author

Peña, J. E., Wysoki, M., Singh, Gajendra, Boscán de M., Nancy, Godoy, Freddy J., Obligado, A., Rossetto, C. J., Ribeiro, I. J. A., Gallo, P. B., Soares, N. B., Sabino, J. C., Martins, A. L. M., Bortoletto, N., Ploetz, R. C., Benscher, D., Vázquez, Aimé, Colls, A., Nagel, Julianne, Schaffer, B., Pinkas, Y., Maymon, M., Freeman, S., Bostros Bastawros, Mikhail, Gosbee, M. J., Johnson, G. I., Joyce, D. C., Irwin, J. A. G., Saaiman, W. C., Prusky, D., Falik, E., Kobiler, I., Fuchs, Y., Zauberman, G., Pesis, E., Ackerman, M., Roth, I., Weksler, A., Yekutiely, O., Waisblum, A., Keinan, A., Ofek, G., Reved, R., Barak, R., Bel, P., Artes, L., Visarathanonth, N., Xu, Z., Ponce de León, L., Muñoz, C., Pérez, L., Diaz de León, F., Kerbel, C., Esparza, S., Bósquez, E., Trinidad, M., Coates, L. M., Cooke, A. W., Dean, J. R., Lucia Duarte, Ana, Alberto Otto, Paulo, Malavasi, Aldo, Lizado, M. C. C., Bautista, M. L., Artes, L. A., Bacalangco, N. S., Farungsang, U., Farungsang, N., Waskar, D. P., Masalkar, S. D., Gaikwad, R. S., Damame, S. V., Bally, Ian S. E., O’Hare, Tim J., Holmes, Rowland J., Atabekov, J. G., Fauquet, Claude M., Tomori, O., Nuss, D. L., Ahlquist, P., Díez, J., Ishikawa, M., Janda, M., Price, B. D., Restrepo-Hartwig, M., Bol, J. F., van Rossum, C. M. A., Garcia, M. L., van der Vossen, E. A. G., Reusken, Chantal B. E. M., Canto, T. R., Gal-On, A., Palukaitis, P., Roossinck, M. J., Flasinski, S., Restrepo-Hartwig, Maria A., Ahlquist, Paul, Smirnyagina, Ekaterina, Lin, Na-Sheng, Nagy, Peter D., Figlerowicz, Marek, Bujarski, Jozef J., Proll, D. F., Guyatt, K. J., Davidson, A. D., Kim, Kook-Hyung, Miller, Eric, Hemenway, Cynthia, Havelda, Z., Dalmay, T., Burgyán, J., Kearney, C. M., Thomson, M., Roland, K. E., Dawson, W. O., Bao, Y., Carter, S. A., Nelson, R. S., Derrick, P. M., Shun Ding, Xin, Eskarous, J. K., Sarkar, S., El-Shamy, M., Chen, J., Sako, N., Yuichiro, W., Ohshima, K., Okada, Y., Felden, Brice, Kuznetsov, Yuri G., Malkin, Alexander J., Greenwood, Aaron, McPherson, Alexander, Ivanov, K. I., Dorokhov, Y. L., Kim, C. H., Sálanki, Katalin, Carrére, Isabelle, Jacquemond, Mireille, Tepfer, Mark, Balazs, Ervin, Sanz, A. I., Serra, M. T., García-Luque, I., Revers, F., Candresse, T., LeGall, O., Souche, S., Lot, H., Dunez, J., Cecchini, E., Milner, J., Al-Kaff, N., Covey, S., Gong, Z., Geri, C., Covey, S. N., Richert-Pöggeler, K. R., Shepherd, R. J., Casper, R., Meiri, Eti, Raccah, B., Gera, A., Singer, S., Allam, E. K., El Afifi, Soheir I., Abo El Nasr, M. A., Abd El Ghaffar, M. H., Elisabeth Johansen, I., Keller, K. E., Hampton, R. O., SÕrensen, Karina, Bishnoi, S. S., Rishi, Narayan, Gumedzoe, M. Y. D., Atissime, K., Yedibahoma, S., Wellink, Joan, Verver, Jan, Bertens, Peter, van Lent, Jan, Goldbach, Rob W., van Kammen, Ab, Lekkerkerker, Annemarie, Taylor, K. M., Spall, V. E., Lomonossoff, G. P., Yu. Morozov, S., Solovyev, A. G., Zelenina, D. A., Savenkov, E. I., Grdzelishvili, V. Z., Morozov, S. Y., Jansen, K. A. J., Wolfs, C. J. A. M., Lohuis, H., Verduin, B. J. M., Stein-Margolina, V. A., Hsu, Y. H., Chang, B. Y., Lin, N. S., Pilartz, Marcel, Jeske, Holger, Verchot, Jeanmarie, Baulcombe, David C., English, David J., Müller, E., Baulcombe, D. C., Malcuit, Isabelle, Kavanagh, Tony, Valkonen, J. P. T., Puurand, Ü., Merits, A., Rabinstein, F., Sorri, O., Saarma, M., Liao, Y. C., Vaquero-Martin, C., Monecke, M., Rohde, W., Prüfer, D., Fischer, R., Antignus, Y., Lachman, O., Pearlsman, M., Cohen, S., Qiu, W. P., Moyer, J. W., Feldhoff, A., Kikkert, M., Kormelink, R., Krczal, G., Peters, D., Szittya, György, Burgyán, József, Wvpijewski, K., Paduch-Cichal, E., Rezler, A., Skrzeczkowska, S., Augustyniak, J., Nemchinov, L., Maiss, E., Hadidi, A., Wittner, Anita, Palkovics, László, Balázs, Ervin, Crescenzi, A., Piazzolla, P., Kheyr-Pour, A., Dafalla, G. A., Lecoq, H., Gronenborn, B., Bauer, U., Laux, I., Hajimorad, M. R., Ding, X. S., Flasinski, Stanislaw, Cassidy, Pour G., Dugdale, B., Beetham, P. R., Harding, R. M., Dale, J. L., Qiu, G., Shaw, J. G., Molnár, A., Más, P., Balsalobre, J. M., Sánchez-Pina, M. A., Pallás, V., Rahontei, J., López, L., Lázara, J. J., Barón, M., Owens, R. A., Steger, G., Hu, Y., Fels, A., Hammond, R. W., Riesner, D., Schröder, A. R. W., Góra, A., Pawlowicz, J., Kierzek, A., Zagorski, W., Baumstark, T., Schiebel, W., Schiebel, R., Axmann, A., Haas, B., Sänger, H. L., Xicai, Yang, Yin, Yie, Feng, Zhu, Yule, Liu, Liangyi, Kang, Po, Tien, Poliyka, H., Staub, U., Wagner, M., Gross, H. J., Sano, Teruo, Ishiguro, Akiro, Fayos, J., Garro, R., Bellés, J. M., Conejero, V., Bonfiglioli, R. G., Webb, D. R., Symons, R. H., El-Dougdoug, K. A., Abo-Zeid, A. A., Ambrós, S., Hernandez, C., Desvignes, J. C. C., Flores, R., d’Aquilio, M., Lisa, V., Boccardo, G., Vera, A., Daròs, J. A., Henkel, J., Spieker, R., Higgins, C., Turley, R., Chamberlain, D., Bateson, M., Dale, J., d’Aquino, L., Ragozzino, A., Henderson, J., Bateson, M. F., Chaleeprom, W., Gibbs, A. J., Graichen, K., Rabenstein, F., Schliephake, E., Smith, H. G., Stevens, M., Sadowy, E., Hulanicka, D., Wegener, B., Martin, M. T., Wetzel, T., Cook, G., Kasdorf, G. G. F., Pietersen, G., Braithwaite, Kathryn S., Gambley, Cherie F., Smith, Grant R., Druka, Arnis, Villegas, Lucille, Dahal, Ganesh, Hull, Roger, Senchugova, N. A., Büchen-Osmond, C., Dallwitz, M. J., Blaine, L. D., Naik, P. S., Sonone, A. B., Kolaskar, A. S., Sgro, J. Y., Palmenberg, A. C., Leclerc, Denis, Hohn, Thomas, Moriones, E., Batlle, A., Luis, M., Alvarez, J., Bernal, J. J., Alonso, J. L., Spak, J., Kubelkova, D., Kuo, T. T., Gachechiladze, K. K., Adamia, R. S., Balardshishvili, N. S., Chanishvili, T. G., Krüger, D. H., Nagy, Tibor, Élö, Péter, Papp, Péter, Orosz, László, Licis, N., Berzins, V., Sariol-Carbelo, Carlos A., RodrCarlos, C. M., Janzen, D., Ward, Colin W., Scott, S. W., Shiel, P. J., Berger, P. H., Aleman, M. E., Beachy, R. N., Fauquet, C. M., Salm, S. N., Rybicki, E. P., Rey, M. E. C., Briddon, R. W., Harper, G., Druka, A., Phillips, S., Brunt, A. A., Hull, R., Hay, Jo, Dasgupta, Indranil, Zaifeng, Fan, Meehan, Brian M., Todd, Daniel, Bunk, Hans-Jörk, Grieco, F., Martelli, G. P., Saldarelli, P., Minafra, A., Morag, A., Mumcuoglu, M., Baybikov, T., Schlesinger, M., Zakay-Rones, Z., Shohat, B., Shohat, M., Miller, M., Shaklay, M., Kalvatchev, Z., Walder, R., Garzaro, D., Barrios, M., Karagöz, Ali, Kuru, Avni, Karim, M. R., Johnson, A. J., Takida, S., Thompson, M. C., Omer, H. M. K., Omer, O. L. M., Biyiti, L., Amvam, R. H., Lamaty, G., Bouchet, P., Xu, J., Hefferon, K. L., Abou Haidar, M. G., and Meng, A. X. X.

Published
1997
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40. Report of a del22q11 in a Patient With Mayer-Rokitansky-KüSter-Hauser (MRKH) Anomaly and Exclusion of WNT-4, RAR-gamma, and RXR-alpha as Major Genes Determining MRKH Anomaly in a Study of 25 Affected Women

Author

Cheroki, Carola, Krepischi-Santos, Ana Cristina, Rosenberg, Carla, Jehee, Fernanda Sarquis, Mingroni-Netto, Regina Célia, Filho, Ivo Pavanello, Filho, Sebastião Zanforlin, Kim, Chong Ae, Bagnoli, Vicente R., Mendonça, Berenice B., Szuhai, Karoly, and Otto, Paulo A.

Published
2006
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43. Abstracts of presentations on plant protection issues at the fifth international Mango Symposium Abstracts of presentations on plant protection issues at the Xth international congress of Virology: September 1-6, 1996 Dan Panorama Hotel, Tel Aviv, Israel August 11-16, 1996 Binyanei haoma, Jerusalem, Israel

Author

Peña, J., Wysoki, M., Singh, Gajendra, Boscán de M., Nancy, Godoy, Freddy, Obligado, A., Rossetto, C., Ribeiro, I., Gallo, P., Soares, N., Sabino, J., Martins, A., Bortoletto, N., Ploetz, R., Benscher, D., Vázquez, Aimé, Colls, A., Nagel, Julianne, Schaffer, B., Pinkas, Y., Maymon, M., Freeman, S., Bostros Bastawros, Mikhail, Gosbee, M., Johnson, G., Joyce, D., Irwin, J., Saaiman, W., Prusky, D., Falik, E., Kobiler, I., Fuchs, Y., Zauberman, G., Pesis, E., Ackerman, M., Roth, I., Weksler, A., Yekutiely, O., Waisblum, A., Keinan, A., Ofek, G., Reved, R., Barak, R., Bel, P., Artes, L., Visarathanonth, N., Xu, Z., Ponce de León, L., Muñoz, C., Pérez, L., Diaz de León, F., Kerbel, C., Esparza, S., Bósquez, E., Trinidad, M., Coates, L., Cooke, A., Dean, J., Lucia Duarte, Ana, Alberto Otto, Paulo, Malavasi, Aldo, Lizado, M., Bautista, M., Bacalangco, N., Farungsang, U., Farungsang, N., Waskar, D., Masalkar, S., Gaikwad, R., Damame, S., Bally, Ian, O'Hare, Tim, Holmes, Rowland, Atabekov, J., Fauquet, Claude, Tomori, O., Nuss, D., Ahlquist, P., Díez, J., Ishikawa, M., Janda, M., Price, B., Restrepo-Hartwig, M., Bol, J., van Rossum, C., Garcia, M., van der Vossen, E., Reusken, Chantal, Canto, T., Gal-On, A., Palukaitis, P., Roossinck, M., Flasinski, S., Restrepo-Hartwig, Maria, Ahlquist, Paul, Smirnyagina, Ekaterina, Lin, Na-Sheng, Nagy, Peter, Figlerowicz, Marek, Bujarski, Jozef, Proll, D., Guyatt, K., Davidson, A., Kim, Kook-Hyung, Miller, Eric, Hemenway, Cynthia, Havelda, Z., Dalmay, T., Burgyán, J., Kearney, C., Thomson, M., Roland, K., Dawson, W., Bao, Y., Carter, S., Nelson, R., Derrick, P., Shun Ding, Xin, Eskarous, J., Sarkar, S., El-Shamy, M., Chen, J., Sako, N., Yuichiro, W., Ohshima, K., Okada, Y., Felden, Brice, Kuznetsov, Yuri, Malkin, Alexander, Greenwood, Aaron, McPherson, Alexander, Ivanov, K., Dorokhov, Y., Kim, C., Sálanki, Katalin, Carrére, Isabelle, Jacquemond, Mireille, Tepfer, Mark, Balazs, Ervin, Sanz, A., Serra, M., García-Luque, I., Revers, F., Candresse, T., LeGall, O., Souche, S., Lot, H., Dunez, J., Cecchini, E., Milner, J., Al-Kaff, N., Covey, S., Gong, Z., Geri, C., Richert-Pöggeler, K., Shepherd, R., Casper, R., Meiri, Eti, Raccah, B., Gera, A., Singer, S., Allam, E., El Afifi, Soheir, Abo El Nasr, M., Abd El Ghaffar, M., Elisabeth Johansen, I., Keller, K., Hampton, R., SÕrensen, Karina, Bishnoi, S., Rishi, Narayan, Gumedzoe, M., Atissime, K., Yedibahoma, S., Wellink, Joan, Verver, Jan, Bertens, Peter, van Lent, Jan, Goldbach, Rob, van Kammen, Ab, Lekkerkerker, Annemarie, Taylor, K., Spall, V., Lomonossoff, G., Yu. Morozov, S., Solovyev, A., Zelenina, D., Savenkov, E., Grdzelishvili, V., Morozov, S., Jansen, K., Wolfs, C., Lohuis, H., Verduin, B., Stein-Margolina, V., Hsu, Y., Chang, B., Lin, N., Pilartz, Marcel, Jeske, Holger, Verchot, Jeanmarie, Baulcombe, David, English, David, Müller, E., Baulcombe, D., Malcuit, Isabelle, Kavanagh, Tony, Valkonen, J., Puurand, Ü., Merits, A., Rabinstein, F., Sorri, O., Saarma, M., Liao, Y., Vaquero-Martin, C., Monecke, M., Rohde, W., Prüfer, D., Fischer, R., Antignus, Y., Lachman, O., Pearlsman, M., Cohen, S., Qiu, W., Moyer, J., Feldhoff, A., Kikkert, M., Kormelink, R., Krczal, G., Peters, D., Szittya, György, Burgyán, József, Wvpijewski, K., Paduch-Cichal, E., Rezler, A., Skrzeczkowska, S., Augustyniak, J., Nemchinov, L., Maiss, E., Hadidi, A., Wittner, Anita, Palkovics, László, Balázs, Ervin, Crescenzi, A., Piazzolla, P., Kheyr-Pour, A., Dafalla, G., Lecoq, H., Gronenborn, B., Bauer, U., Laux, I., Hajimorad, M., Ding, X., Flasinski, Stanislaw, Cassidy, Pour, Dugdale, B., Beetham, P., Harding, R., Dale, J., Qiu, G., Shaw, J., Molnár, A., Más, P., Balsalobre, J., Sánchez-Pina, M., Pallás, V., Rahontei, J., López, L., Lázara, J., Barón, M., Owens, R., Steger, G., Hu, Y., Fels, A., Hammond, R., Riesner, D., Schröder, A., Góra, A., Pawlowicz, J., Kierzek, A., Zagorski, W., Baumstark, T., Schiebel, W., Schiebel, R., Axmann, A., Haas, B., Sänger, H., Xicai, Yang, Yin, Yie, Feng, Zhu, Yule, Liu, Liangyi, Kang, Po, Tien, Poliyka, H., Staub, U., Wagner, M., Gross, H., Sano, Teruo, Ishiguro, Akiro, Fayos, J., Garro, R., Bellés, J., Conejero, V., Bonfiglioli, R., Webb, D., Symons, R., El-Dougdoug, K., Abo-Zeid, A., Ambrós, S., Hernandez, C., Desvignes, J., Flores, R., d'Aquilio, M., Lisa, V., Boccardo, G., Vera, A., Daròs, J., Henkel, J., Spieker, R., Higgins, C., Turley, R., Chamberlain, D., Bateson, M., d'Aquino, L., Ragozzino, A., Henderson, J., Chaleeprom, W., Gibbs, A., Graichen, K., Rabenstein, F., Schliephake, E., Smith, H., Stevens, M., Sadowy, E., Hulanicka, D., Wegener, B., Martin, M., Wetzel, T., Cook, G., Kasdorf, G., Pietersen, G., Braithwaite, Kathryn, Gambley, Cherie, Smith, Grant, Druka, Arnis, Villegas, Lucille, Dahal, Ganesh, Hull, Roger, Senchugova, N., Büchen-Osmond, C., Dallwitz, M., Blaine, L., Naik, P., Sonone, A., Kolaskar, A., Sgro, J., Palmenberg, A., Leclerc, Denis, Hohn, Thomas, Moriones, E., Batlle, A., Luis, M., Alvarez, J., Bernal, J., Alonso, J., Spak, J., Kubelkova, D., Kuo, T., Gachechiladze, K., Adamia, R., Balardshishvili, N., Chanishvili, T., Krüger, D., Nagy, Tibor, Élö, Péter, Papp, Péter, Orosz, László, Licis, N., Berzins, V., Sariol-Carbelo, Carlos, RodrCarlos, C., Janzen, D., Ward, Colin, Scott, S., Shiel, P., Berger, P., Aleman, M., Beachy, R., Fauquet, C., Salm, S., Rybicki, E., Rey, M., Briddon, R., Harper, G., Druka, A., Phillips, S., Brunt, A., Hull, R., Hay, Jo, Dasgupta, Indranil, Zaifeng, Fan, Meehan, Brian, Todd, Daniel, Bunk, Hans-Jörk, Grieco, F., Martelli, G., Saldarelli, P., Minafra, A., Morag, A., Mumcuoglu, M., Baybikov, T., Schlesinger, M., Zakay-Rones, Z., Shohat, B., Shohat, M., Miller, M., Shaklay, M., Kalvatchev, Z., Walder, R., Garzaro, D., Barrios, M., Karagöz, Ali, Kuru, Avni, Karim, M., Johnson, A., Takida, S., Thompson, M., Omer, H., Omer, O., Biyiti, L., Amvam, R., Lamaty, G., Bouchet, P., Xu, J., Hefferon, K., Abou Haidar, M., and Meng, A.

Published
2018

44. Additional file 4: Table S4. of Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Author

D’Angelo, Carla, Varela, Monica, Castro, Claudia De, Otto, Paulo, Perez, Ana, Lourenço, Charles, Kim, Chong, Bertola, Debora, Kok, Fernando, Garcia-Alonso, Luis, and Koiffmann, Celia

Subjects
body regions, nervous system, fungi
Abstract

Evaluation of the level of obesity in 208 children and adolescents with BMI ≥ 95th percentile. (PDF 81 kb)

Published
2018
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45. Additional file 5: Table S5. of Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity

Author

D’Angelo, Carla, Varela, Monica, Castro, Claudia De, Otto, Paulo, Perez, Ana, LourençO, Charles, Kim, Chong, Bertola, Debora, Kok, Fernando, Garcia-Alonso, Luis, and Koiffmann, Celia

Subjects
body regions, nervous system, fungi
Abstract

Comparison of the pCNVs rates for children and adolescents with BMI at or above the 95th percentile by age, sex and level of obesity. (PDF 81 kb)

Published
2018
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47. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

Author

de Oliveira, Juliana Ferreira, primary, do Prado, Paula Favoretti Vital, additional, da Costa, Silvia Souza, additional, Sforça, Mauricio Luis, additional, Canateli, Camila, additional, Ranzani, Americo Tavares, additional, Maschietto, Mariana, additional, de Oliveira, Paulo Sergio Lopes, additional, Otto, Paulo A., additional, Klevit, Rachel E., additional, Krepischi, Ana Cristina Victorino, additional, Rosenberg, Carla, additional, and Franchini, Kleber Gomes, additional

Published
2018
Full Text
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49. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

Author

Carneiro, Thaise, primary, Krepischi, Ana, additional, Souza da Costa, Silvia, additional, Tojal da Silva, Israel, additional, Vianna-Morgante, Angela, additional, Valieris, Renan, additional, Ezquina, Suzana, additional, Bertola, Debora, additional, Otto, Paulo, additional, and Rosenberg, Carla, additional

Published
2018
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50. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion

Author

dos Santos, Alexsandro, primary, Campagnari, Francine, additional, Krepischi, Ana Cristina Victorino, additional, Ribeiro Câmara, Maria de Lourdes, additional, de Arruda Brasil, Rita de Cássia E., additional, Vieira, Ligia, additional, Vianna-Morgante, Angela M., additional, Otto, Paulo A., additional, Pearson, Peter L., additional, and Rosenberg, Carla, additional

Published
2018
Full Text
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