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American Journal of Medical Genetics|June 8, 2001
Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformationsC R Warden, D A Pillers, M J Rice, et al.
American Journal of Medical Genetics|June 8, 2001
Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndromeP Hedera, J L Gorski
American Journal of Medical Genetics|June 8, 2001
Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?A R Larson, K D Josephson, R M Pauli, et al.
American Journal of Medical Genetics|May 5, 2001
Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for X-linked mental retardation: mutation screening in Börjeson-Forssman-Lehmann syndrome and MRX27K M Lower, J Gecz
American Journal of Medical Genetics|May 9, 2001
Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecBD L Duffy, G W Montgomery, J Hall, et al.
American Journal of Medical Genetics|May 9, 2001
Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)A C Baruch, R P Erickson
American Journal of Medical Genetics|May 9, 2001
Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasiaK Kobielak, A Kobielak, J Roszkiewicz, et al.
American Journal of Medical Genetics|May 9, 2001
Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndromeD E Weese-Mayer, J M Silvestri, A D Huffman, et al.
American Journal of Medical Genetics|May 9, 2001
Excess paternal age in apparently sporadic osteogenesis imperfectaA Blumsohn, S J McAllion, C R Paterson
American Journal of Medical Genetics|May 9, 2001
Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindredC Heike, M Seto, A Hing, et al.
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