Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome
暂无分享,去创建一个
N. de Leeuw | B. Gener | L. Hoefsloot | D. Wieczorek | D. Lohmann | G. Gillessen‐kaesbach | A. Kuechler | U. Hehr | S. Fischer | S. Seland | Ma Jesús Martínez González | Lies H. Hoefsloot | Ma Jesús Martínez González | G. Gillessen‐Kaesbach
[1] M. Farhadi,et al. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. , 2008, American journal of human genetics.
[2] B. Gener,et al. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration , 2008, BMC Medical Genetics.
[3] C. Shaw-Smith,et al. Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup‐shaped ears, congenital heart defect, and mental retardation—New MCA/MR syndrome in two affected sibs and a mildly affected mother? , 2007, American journal of medical genetics. Part A.
[4] S. South,et al. Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster , 2007, American journal of medical genetics. Part A.
[5] A. Verloes,et al. PRACTICAL GENETICS In association with CHARGE syndrome : an update , 2007 .
[6] R. Zechi-Ceide,et al. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate , 2006, Clinical dysmorphology.
[7] D. Horn,et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. , 2005, European journal of medical genetics.
[8] Bba,et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene , 2005, Journal of Medical Genetics.
[9] A. Hunter,et al. The external ear: More attention to detail may aid syndrome diagnosis and contribute answers to embryological questions , 2005 .
[10] E. Chouery,et al. A new autosomal recessive oto‐facial syndrome with midline malformations , 2005, American journal of medical genetics. Part A.
[11] Jürgen Kunze,et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation , 2004, European Journal of Human Genetics.
[12] Han G Brunner,et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome , 2004, Nature Genetics.
[13] P. Hedera,et al. Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1 , 2002, Journal of medical genetics.
[14] W. Henn,et al. Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome? , 2001, Clinical dysmorphology.
[15] M. Passos-Bueno,et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes , 2000, Human mutation.
[16] M. Dixon,et al. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. , 1997, American journal of human genetics.
[17] J. Wasmuth,et al. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome , 1996, Nature Genetics.
[18] E. Jabs,et al. Mild mandibulofacial dysostosis in a child with a deletion of 3p. , 1993, American journal of medical genetics.
[19] E. Jabs,et al. Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. , 1991, Genomics.
[20] E. Haan,et al. Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. , 1991, American journal of human genetics.
[21] W. Hauck,et al. Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. , 1987, American journal of medical genetics.
[22] H. Toriello,et al. X-linked syndrome of branchial arch and other defects. , 1985, American journal of medical genetics.
[23] A. Richieri‐Costa,et al. A newly recognized autosomal dominant mandibulofacaial dysostosis (Bauru type): report on a Brazilian family , 1998 .