A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis
Nishimura, Agnes L., Mitne-Neto, Miguel, Silva, Helga C.A., Richieri-Costa, Antônio, Middleton, Susan, Cascio, Duilio, Kok, Fernando, Oliveira, João R.M., Gillingwater, Tom, Webb, Jeanette, Skehel, Paul, Zatz, Mayana
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
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Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome
Richieri‐Costa, Antonio, Zechi‐Ceide, Roseli M., Candido‐Souza, Rosana M., Monteiro, Rejane A. C., Tonello, Cristiano, Freitas, Mariana L., Kokitsu‐Nakata, Nancy M., Vendramini‐Pittoli, Siulan, Mazzeu, Juliana F., Overes, Madelief, Ali‐Amin, Roza, Slegtenhorst, Marjon, Hoefsloot, Lies H., Jehee, Fernanda S.
Published in American journal of medical genetics. Part A (01.11.2019)
Published in American journal of medical genetics. Part A (01.11.2019)
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Identification of a microdeletion at the 7q33‐q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
Petrin, Aline L., Giacheti, Célia M., Maximino, Luciana P., Abramides, Dagma V. M., Zanchetta, Sthella, Rossi, Natalia F., Richieri‐Costa, Antônio, Murray, Jeffrey C.
Published in American journal of medical genetics. Part A (01.12.2010)
Published in American journal of medical genetics. Part A (01.12.2010)
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Neuropsychological functioning and its relationship with brain anatomical measures of children and adolescents with non-syndromic cleft lip and palate
Bodoni, Patrícia Soares Baltazar, Leoni, Renata Ferranti, do Vale, Arthur Bernardi, da Silva, Pedro Henrique Rodrigues, Meira Junior, Silvio Garcia, Richieri Costa, Antonio, Tabaquim, Maria De Lourdes Merighi
Published in Child neuropsychology (02.01.2021)
Published in Child neuropsychology (02.01.2021)
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Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients
Ribeiro, Lucilene Arilho, Quiezi, Rodrigo Gonçalves, Nascimento, Adriana, Bertolacini, Claudia Pereira, Richieri-Costa, Antonio
Published in American journal of medical genetics. Part A (01.07.2010)
Published in American journal of medical genetics. Part A (01.07.2010)
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Journal Article
GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?
Rahimov, Fedik, Ribeiro, Lucilene Arilho, de Miranda, Eziquiel, Richieri-Costa, Antonio, Murray, Jeffrey C.
Published in American journal of medical genetics. Part A (01.12.2006)
Published in American journal of medical genetics. Part A (01.12.2006)
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Conference Proceeding
Variable phenotypic manifestations of a K44N mutation in the TGIF gene
Richieri-Costa, Antonio, Ribeiro, Lucilene Arilho
Published in Brain & development (Tokyo. 1979) (01.03.2008)
Published in Brain & development (Tokyo. 1979) (01.03.2008)
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Journal Article
22q11.2 deletion syndrome in diverse populations
Kruszka, Paul, Addissie, Yonit A., McGinn, Daniel E., Porras, Antonio R., Biggs, Elijah, Share, Matthew, Crowley, T. Blaine, Chung, Brian H. Y., Mok, Gary T. K., Mak, Christopher C. Y., Muthukumarasamy, Premala, Thong, Meow‐Keong, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Mishra, Rupesh, Shotelersuk, Vorasuk, Ekure, Ekanem Nsikak, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Ferreira, Carlos R., Duncan, Jordann‐Mishael, Patil, Siddaramappa Jagdish, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Richieri‐Costa, Antonio, Gil‐da‐Silva‐Lopes, Vera L., Adeyemo, Adebowale A., Summar, Marshall, Zackai, Elaine H., McDonald‐McGinn, Donna M., Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.04.2017)
Published in American journal of medical genetics. Part A (01.04.2017)
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Journal Article
Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF‐β, hedgehog, and FGF signaling
Roessler, Erich, Hu, Ping, Marino, Juliana, Hong, Sungkook, Hart, Rachel, Berger, Seth, Martinez, Ariel, Abe, Yu, Kruszka, Paul, Thomas, James W., Mullikin, James C., Wang, Yupeng, Wong, Wendy S.W., Niederhuber, John E., Solomon, Benjamin D., Richieri‐Costa, Antônio, Ribeiro‐Bicudo, L.A., Muenke, Maximilian
Published in Human mutation (01.10.2018)
Published in Human mutation (01.10.2018)
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Journal Article
Down syndrome in diverse populations
Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Joseph, Daniel Akinsanya, Ikebudu, Desmond, Ugwu, Christopher Emeka, Okoromah, Christy A. N., Addissie, Yonit A., Pardo, Katherine L., Brough, J. Joseph, Lee, Ni‐Chung, Girisha, Katta M., Patil, Siddaramappa Jagdish, Ng, Ivy S. L., Min, Breana Cham Wen, Jamuar, Saumya S., Tibrewal, Shailja, Wallang, Batriti, Ganesh, Suma, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Prabodha, L. B. Lahiru, Richieri‐Costa, Antonio, Muthukumarasamy, Premala, Thong, Meow‐Keong, Jones, Kelly L., Abdul‐Rahman, Omar A., Ekure, Ekanem Nsikak, Adeyemo, Adebowale A., Summar, Marshall, Linguraru, Marius George, Muenke, Maximilian
Published in American journal of medical genetics. Part A (01.01.2017)
Published in American journal of medical genetics. Part A (01.01.2017)
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Journal Article
Chromothripsis with at least 12 breaks at 1p36.33-p35.3 in a boy with multiple congenital anomalies
Gamba, Bruno Faulin, Richieri-Costa, Antônio, Costa, Silvia, Rosenberg, Carla, Ribeiro-Bicudo, Lucilene Arilho
Published in Molecular genetics and genomics : MGG (01.12.2015)
Published in Molecular genetics and genomics : MGG (01.12.2015)
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Journal Article
Waardenburg syndrome: Clinical differentiation between types I and II
Pardono, Eliete, van Bever, Yolande, van den Ende, Jenneke, Havrenne, Poti C., Iughetti, Paula, Maestrelli, Sylvia R.P., Costa F, Orozimbo, Richieri-Costa, Antonio, Frota-Pessoa, Oswaldo, Otto, Paulo A.
Published in American journal of medical genetics. Part A (15.03.2003)
Published in American journal of medical genetics. Part A (15.03.2003)
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Journal Article
Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome
Pinto, Rayane de Oliveira, Peixoto, Adriano Porto, Pinto, Ary Dos Santos, Richieri-Costa, Antonio, Zechi-Ceide, Roseli Maria, Ozawa, Terumi Okada, Dalben, Gisele da Silva
Published in The Journal of craniofacial surgery (01.09.2018)
Published in The Journal of craniofacial surgery (01.09.2018)
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Journal Article
Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
Saadi, Irfan, Alkuraya, Fowzan S., Gisselbrecht, Stephen S., Goessling, Wolfram, Cavallesco, Resy, Turbe-Doan, Annick, Petrin, Aline L., Harris, James, Siddiqui, Ursela, Grix, Arthur W., Hove, Hanne D., Leboulch, Philippe, Glover, Thomas W., Morton, Cynthia C., Richieri-Costa, Antonio, Murray, Jeffrey C., Erickson, Robert P., Maas, Richard L.
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Journal Article
Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil
Richieri-Costa, Antonio, Ribeiro, Lucilene Arilho
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
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Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
de Lima, Renata L L Ferreira, Hoper, Sarah A, Ghassibe, Michella, Cooper, Margaret E, Rorick, Nicholas K, Kondo, Shinji, Katz, Lori, Marazita, Mary L, Compton, John, Bale, Sherri, Hehr, Ute, Dixon, Michael J, Daack-Hirsch, Sandra, Boute, Odile, Bayet, Bénédicte, Revencu, Nicole, Verellen-Dumoulin, Christine, Vikkula, Miikka, Richieri-Costa, Antônio, Moretti-Ferreira, Danilo, Murray, Jeffrey C, Schutte, Brian C
Published in Genetics in medicine (01.04.2009)
Published in Genetics in medicine (01.04.2009)
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A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia
Zechi-Ceide, Roseli Maria, Moura, Priscila Padilha, Raskin, Salmo, Richieri-Costa, Antonio, Guion-Almeida, Maria Leine
Published in American journal of medical genetics. Part A (01.08.2013)
Published in American journal of medical genetics. Part A (01.08.2013)
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