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
DNA Methylation Effects on Van der Woude Syndrome Phenotypic Variability
Seaberg, Amanda, Awotoye, Waheed, Qian, Fang, Machado-Paula, Ligiane A, Dunlay, Lindsey, Butali, Azeez, Murray, Jeff, Moreno-Uribe, Lina, Petrin, Aline L
Published in The Cleft palate-craniofacial journal (07.08.2024)
Published in The Cleft palate-craniofacial journal (07.08.2024)
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Journal Article
Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans
Lansdon, Lisa A, Darbro, Benjamin W, Petrin, Aline L, Hulstrand, Alissa M, Standley, Jennifer M, Brouillette, Rachel B, Long, Abby, Mansilla, M Adela, Cornell, Robert A, Murray, Jeffrey C, Houston, Douglas W, Manak, J Robert
Published in Genetics (Austin) (01.01.2018)
Published in Genetics (Austin) (01.01.2018)
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Journal Article
Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P)
Butali, Azeez, Suzuki, Satoshi, Cooper, Margaret E., Mansilla, Adela M., Cuenco, Karen, Leslie, Elizabeth J., Suzuki, Yasushi, Niimi, Teruyuki, Yamamoto, Masahiko, Ayanga, Gongorjav, Erkhembaatar, Tudevdorj, Furukawa, Hiroo, Fujiwawa, Kumiko, Imura, Hideto, Petrin, Aline L., Natsume, Nagato, Beaty, Terri H., Marazita, Mary L., Murray, Jeffery C.
Published in American journal of medical genetics. Part A (01.05.2013)
Published in American journal of medical genetics. Part A (01.05.2013)
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Journal Article
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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Journal Article
A Case of 3q29 Microdeletion Syndrome Involving Oral Cleft Inherited from a Nonaffected Mosaic Parent: Molecular Analysis and Ethical Implications
Petrin, Aline L., Daack-Hirsch, Sandra, L'heureux, Jamie, Murray, Jeffrey C.
Published in The Cleft palate-craniofacial journal (01.03.2011)
Published in The Cleft palate-craniofacial journal (01.03.2011)
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Journal Article
A case of 3q29 microdeletion syndrome involving oral cleft inherited from a non-affected mosaic parent: molecular analysis and ethical implications
Petrin, Aline L., Daack-Hirsch, Sandra, L’Heureux, Jamie, Murray, Jeffrey C
Published in The Cleft palate-craniofacial journal (04.05.2010)
Published in The Cleft palate-craniofacial journal (04.05.2010)
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Journal Article
Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX 7 and VAX 1 in the Etiology of Nonsyndromic CL(P)
Butali, Azeez, Suzuki, Satoshi, Cooper, Margaret E., Mansilla, Adela M., Cuenco, Karen, Leslie, Elizabeth J., Suzuki, Yasushi, Niimi, Teruyuki, Yamamoto, Masahiko, Ayanga, Gongorjav, Erkhembaatar, Tudevdorj, Furukawa, Hiroo, Fujiwawa, Kumiko, Imura, Hideto, Petrin, Aline L., Natsume, Nagato, Beaty, Terri H., Marazita, Mary L., Murray, Jeffery C.
Published in American journal of medical genetics. Part A (01.05.2013)
Published in American journal of medical genetics. Part A (01.05.2013)
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Journal Article
Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Non-syndromic CL(P)
Butali, Azeez, Suzuki, Satoshi, Cooper, Margaret E., Mansilla, Adela M., Cuenco, Karen, Leslie, Elizabeth J, Suzuki, Yasushi, Niimi, Teruyuki, Yamamoto, Masahiko, Ayanga, Gongorjav, Erkhembaatar, Tudevdorj, Furukawa, Hiroo, Fujiwawa, Kumiko, Imura, Hideto, Petrin, Aline L., Natsume, Nagato, Beaty, Terri H., Marazita, Mary L., Murray, Jeffery C.
Published in American journal of medical genetics. Part A (05.03.2013)
Published in American journal of medical genetics. Part A (05.03.2013)
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Journal Article
Deficiency of the Cytoskeletal Protein SPECC1 L Leads to Oblique Facial Clefting
SAADI, Irfan, ALKURAYA, Fowzan S, HOVE, Hanne D, LEBOULCH, Philippe, GLOVER, Thomas W, MORTON, Cynthia C, RICHIERI-COSTA, Antonio, MURRAY, Jeffrey C, ERICKSON, Robert P, MAAS, Richard L, GISSELBRECHT, Stephen S, GOESSLING, Wolfram, CAVALLESCO, Resy, TURBE-DOAN, Annick, PETRIN, Aline L, HARRIS, James, SIDDIQUI, Ursela, GRIX, Arthur W
Published in American journal of human genetics (2011)
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Published in American journal of human genetics (2011)
Journal Article
Identification of a 7q33-q35 microdeletion 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, Antonio, 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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Journal Article
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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