Cornelia de Lange syndrome: a case study.
暂无分享,去创建一个
[1] F. Trefz,et al. Three-year-old girl with partial trisomy 4p and partial monosomy 8p with resemblance to Brachmann-de Lange syndrome--another locus for Brachmann-de Lange syndrome on 4p? , 2000, American journal of medical genetics.
[2] T. Berney,et al. Behavioural phenotype of Cornelia de Lange syndrome , 1999, Archives of disease in childhood.
[3] J. Burn,et al. Second‐trimester pregnancy associated plasma protein‐A levels are reduced in Cornelia de Lange syndrome pregnancies , 1999, Prenatal diagnosis.
[4] T. Strachan,et al. Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes , 1999, Human Genetics.
[5] K. Sarimski. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. , 2007, Journal of intellectual disability research : JIDR.
[6] H. Northrup,et al. Brachmann-de Lange syndrome: autosomal dominant inheritance and male-to-male transmission. , 1996, American journal of medical genetics.
[7] K. Méhes,et al. Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype. , 1996, American journal of medical genetics.
[8] P. Vaast,et al. Brachmann-de Lange syndrome: pre- and postnatal findings. , 1996, American journal of medical genetics.
[9] A. Lin,et al. Familial Brachmann-de Lange syndrome: further evidence for autosomal dominant inheritance and review of the literature. , 1993, American journal of medical genetics.
[10] J. F. Magee,et al. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. , 1993, American journal of medical genetics.
[11] G. Zampino,et al. Variability of the Brachmann-de Lange syndrome. , 1993, American journal of medical genetics.
[12] R. Stevenson,et al. Brachmann-de Lange syndrome: diagnostic difficulties posed by the mild phenotype. , 1993, American journal of medical genetics.
[13] L. Jackson,et al. de Lange syndrome: a clinical review of 310 individuals. , 1993, American journal of medical genetics.
[14] J. Burn,et al. Brachmann-de Lange syndrome. Delineation of the clinical phenotype. , 1993, American journal of medical genetics.
[15] D. D. Burks,et al. Prenatal ultrasonographic appearance of “Cornelia de Lange” syndrome , 1992, Journal of clinical ultrasound : JCU.
[16] G. Dinari,et al. Gastroesophageal dysfunction in Brachmann-de Lange syndrome. , 1992, American journal of medical genetics.
[17] L. Jackson,et al. Cornelia de Lange Syndrome: Otolaryngologic Manifestations , 1990 .
[18] D. Billmire,et al. Gastroesophageal dysfunction in Cornelia de Lange syndrome. , 1989, Journal of pediatric surgery.
[19] Golder N Wilson,et al. Further delineation of the dup(3q) syndrome. , 1985, American journal of medical genetics.
[20] J. Opitz,et al. Sixty-four patients with Brachmann-de Lange syndrome: a survey. , 1985, American journal of medical genetics.
[21] J. Grudzinskas,et al. Pregnancy‐associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome , 1983, Prenatal diagnosis.
[22] A. Falek,et al. Familial de Lange syndrome with chromosome abnormalities. , 1966, Pediatrics.
[23] J. M. Opitz,et al. BRACHMANN/DE LANGE SYNDROME. , 1985, Lancet.