Search Results - "Ramadevi, A. Radha"

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity by Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D

“…Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory…”
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Novel and recurrent mutations in WISP3 and an atypical phenotype by Bhavani, Gandham SriLakshmi, Shah, Hitesh, Dalal, Ashwin B., Shukla, Anju, Danda, Sumita, Aggarwal, Shagun, Phadke, Shubha R., Gupta, Neerja, Kabra, Madhulika, Gowrishankar, Kalpana, Gupta, Anju, Bhat, Meenakshi, Puri, Ratna D., Bijarnia-Mahay, Sunita, Nampoothiri, Sheela, Mohanasundaram, Kavitha M., Rajeswari, S., Kulkarni, Akhil M., Kulkarni, Muralidhar L., Ranganath, Prajnya, Ramadevi, A. Radha, Hariharan, Sankar V., Girisha, Katta Mohan

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Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion by Prabhakara, K., Bruno, Damien L., Padman, Priya, Prasad, Suma, Sudheer Kumar, R., Slater, Howard R., Radha Ramadevi, A.

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Premature centromere division versus C-anaphases in cultures: Need for consensus and guidelines by Prabhakara, K., Radha Ramadevi, A.

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Partial 15q22 trisomy due to segregation of maternal 10;15 reciprocal translocation by PRABHAKARA, K, DUTTA, Usha, RADHA RAMADEVI, A

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Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development by Prabhakara, K, Angalena, R, Ramadevi, A Radha

“…We describe a patient with the co-occurrence of a familial 9;11 reciprocal translocation and an XX sex reversal. The patient had cryptorchidism, delayed…”
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De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation by Ramadevi, A. Radha, Naik, Usha, Dutta, Usha, Srikanth, Prabhakara, K.

“…An 8‐year‐old boy who was diagnosed to have piebaldism had moderate growth and mental retardation. Chromosome analysis from peripheral blood showed pericentric…”
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Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18 by Prabhakara, K., Wyandt, Herman E., Huang, Xin L., Prasad, K.Suma, Ramadevi, A.Radha

“…We report a recurrent partial monosomy of 18p10→11.2 and proximal partial trisomy of 18q10→21.3 caused by a maternal pericentric inversion of chromosome 18,…”
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Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis by DE MUNNIK, Sonja A, BICKNELL, Louise S, HAGEN, Johanna M.van, HENNEKAM, Raoul C, JANSWEIJER, Maaike Ce, JOHNSON, Diana, KANT, Sarina G, OPITZ, John M, RADHA RAMADEVI, A, REARDON, Willie, ROSS, Alison, SARDA, Pierre, AFTIMOS, Salim, SCHRANDER-STUMPEL, Constance Trm, SCHOOTS, Jeroen, KAREN TEMPLE, I, TERHAL, Paulien A, TOUTAIN, Annick, WISE, Carol A, WRIGHT, Michael, SKIDMORE, David L, ESAMUELS, Mark, HHOEFSLOOT, Lies, AL-AAMA, Jumana Y, VAMKNOERS, Nine, BRUNNER, Han G, JACKSON, Andrew P, BONGERS, Ernie Mhf, BEVER, Yolande Van, BOBER, Michael B, CLAYTON-SMITH, Jill, EDREES, Alaa Y, FEINGOLD, Murray, FRYER, Alan

“…Meier-Gorlin syndrome (MGS) is an autosomal recessive disorder characterized by microtia, patellar aplasia/hypoplasia, and short stature. Recently, mutations…”
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Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder by de Munnik, Sonja A., Otten, Barto J., Schoots, Jeroen, Bicknell, Louise S., Aftimos, Salim, Al‐Aama, Jumana Y., van Bever, Yolande, Bober, Michael B., Borm, George F., Clayton‐Smith, Jill, Deal, Cheri L., Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, van Hagen, Johanna M., Hennekam, Raoul C., Jansweijer, Maaike C.E., Johnson, Diana, Kant, Sarina G., Opitz, John M., Ramadevi, A. Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander‐Stumpel, Constance T.R.M., Sluiter, A. Erik, Temple, I. Karen, Terhal, Paulien A., Toutain, Annick, Wise, Carol A., Wright, Michael, Skidmore, David L., Samuels, Mark E., Hoefsloot, Lies H., Knoers, Nine V.A.M., Brunner, Han G., Jackson, Andrew P., Bongers, Ernie M.H.F.

“…Meier–Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by primordial dwarfism, microtia, and patellar aplasia/hypoplasia. Recently,…”
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Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones by Radha Ramadevi, A., Prabhakara, K., Dutta, Usha

“…The role of balanced translocations in the human morphogenesis is difficult to interpret. A balanced reciprocal translocation (BRT) was observed in a female…”
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De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation by Ramadevi, A. Radha, Naik, Usha, Dutta, Usha, Srikanth, Prabhakara, K.

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Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion by Prabhakara, K, Bruno, Damien L, Padman, Priya, Prasad, Suma, Sudheer Kumar, R, Slater, Howard R, Radha Ramadevi, A

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Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder by de Munnik, Sonja A., Otten, Barto J., Schoots, Jeroen, Bicknell, Louise S., Aftimos, Salim, Al-Aama, Jumana Y., van Bever, Yolande, Bober, Michael B., Borm, George F., Clayton-Smith, Jill, Deal, Cheri L., Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, van Hagen, Johanna M., Hennekam, Raoul C., Jansweijer, Maaike C.E., Johnson, Diana, Kant, Sarina G., Opitz, John M., Ramadevi, A. Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T.R.M., Sluiter, A. Erik, Temple, I. Karen, Terhal, Paulien A., Toutain, Annick, Wise, Carol A., Wright, Michael, Skidmore, David L., Samuels, Mark E., Hoefsloot, Lies H., Knoers, Nine V.A.M., Brunner, Han G., Jackson, Andrew P., Bongers, Ernie M.H.F.

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