Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Autor: Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, Jamieson, Robyn V.

Publikováno v: In Genetics in Medicine October 2020 22(10):1623-1632

Marfan Database (third edition): new mutations and new routines for the software.

Autor: Collod‐Béroud, Gwenaëlle, Béroud, Christophe, Ades, Lesley, Black, Cheryl, Boxer, Maureen, Brock, David J. H., Holman, Katherine J., de Paepe, Anne, Francke, Uta, Grau, Ulrich, Hayward, Caroline, Klein, Hanns‐Georg, Liu, Wanguo, Nuytinck, Lieve, Peltonen, Leena, Alvarez Perez, Ana Beatriz, Rantamäki, Terhi, Junien, Claudine, Boileau, Catherine

Publikováno v: Nucleic Acids Research; Jan1998, Vol. 26 Issue 1, p231-236, 6p

Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations

Autor: Adès, Lesley C., Sreetharan, Darshikka, Onikul, Ella, Stockton, Vivienne, Watson, Karen C., Holman, Katherine J.

Publikováno v: American Journal of Medical Genetics. Part A; 15 May 2002, Vol. 109 Issue: 4 p261-270, 10p

Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.

Autor: Adès LC; Marfan Research Group, Department of Clinical Genetics, The Children's Hospital at Westmead, LB 4001, Westmead, NSW 2145, Australia. lesleya@chw.edu.au, Sreetharan D, Onikul E, Stockton V, Watson KC, Holman KJ

Publikováno v: American journal of medical genetics [Am J Med Genet] 2002 May 15; Vol. 109 (4), pp. 261-70.