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Results: 1-7 |
Results: 7
Two unbalanced translocations involving a common 6p25 region in two XY female patients
Authors: Batanian, JR Grange, DK Fleming, R Gadre, B Wetzel, J
Citation: Jr. Batanian et al., Two unbalanced translocations involving a common 6p25 region in two XY female patients, CLIN GENET, 59(1), 2001, pp. 52-57
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
Authors: Reichenberger, E Tiziani, V Watanabe, S Park, L Ueki, Y Santanna, C Baur, ST Shiang, R Grange, DK Beighton, P Gardner, J Hamersma, H Sellars, S Ramesar, R Lidral, AC Sommer, A do Amaral, CMR Gorlin, RJ Mulliken, JB Olsen, BR
Citation: E. Reichenberger et al., Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK, AM J HU GEN, 68(6), 2001, pp. 1321-1326
Reply to the letter to the editor by Happle et al. - "Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase"
Authors: Grange, DK Kelley, RI
Citation: Dk. Grange et Ri. Kelley, Reply to the letter to the editor by Happle et al. - "Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase", AM J MED G, 94(4), 2000, pp. 342-343
Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
Authors: Verloes, A Lesenfants, S Barr, M Grange, DK Journel, H Lombet, J Mortier, G Roeder, E
Citation: A. Verloes et al., Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia, AM J MED G, 90(5), 2000, pp. 407-422
Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting
Authors: Batanian, JR Huang, YF Gottesman, GS Grange, DK Blasingame, AV
Citation: Jr. Batanian et al., Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting, AM J MED G, 90(4), 2000, pp. 276-282
CHILD syndrome caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase
Authors: Grange, DK Kratz, LE Braverman, NE Kelley, RI
Citation: Dk. Grange et al., CHILD syndrome caused by deficiency of 3 beta-hydroxysteroid-Delta(8), Delta(7)-isomerase, AM J MED G, 90(4), 2000, pp. 328-335
A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene
Authors: Walker, LC Marini, JC Grange, DK Filie, J Yeowell, HN
Citation: Lc. Walker et al., A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene, MOL GEN MET, 67(1), 1999, pp. 74-82
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