Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3
Solomon, N M, Ross, S A, Morgan, T, Belsky, J L, Hol, F A, Karnes, P S, Hopwood, N J, Myers, S E, Tan, A S, Warne, G L, Forrest, S M, Thomas, P Q
Published in Journal of medical genetics (01.09.2004)
Published in Journal of medical genetics (01.09.2004)
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Journal Article
von Hippel-Lindau disease
COUCH, V, LINDOR, N. M, KARNES, P. S, MICHELS, V. V
Published in Mayo Clinic proceedings (01.03.2000)
Published in Mayo Clinic proceedings (01.03.2000)
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Journal Article
Craniofacial and dental manifestations of Proteus syndrome: a case report
Becktor, K B, Becktor, J P, Karnes, P S, Keller, E E
Published in The Cleft palate-craniofacial journal (01.03.2002)
Published in The Cleft palate-craniofacial journal (01.03.2002)
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Journal Article
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
Kim, S, Westphal, V, Srikrishna, G, Mehta, D P, Peterson, S, Filiano, J, Karnes, P S, Patterson, M C, Freeze, H H
Published in The Journal of clinical investigation (01.01.2000)
Published in The Journal of clinical investigation (01.01.2000)
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Journal Article
Valvular heart disease in four patients with Maroteaux-Lamy syndrome
TAN, C. T. T, SCHAFF, H. V, MILLER, F. A, EDWARDS, W. D, KARNES, P. S
Published in Circulation (New York, N.Y.) (1992)
Published in Circulation (New York, N.Y.) (1992)
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Conference Proceeding
Journal Article
Jarcho-Levin syndrome: four new cases and classification of subtypes
Karnes, P S, Day, D, Berry, S A, Pierpont, M E
Published in American journal of medical genetics (01.09.1991)
Published in American journal of medical genetics (01.09.1991)
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Journal Article
Mosaic trisomy 16 in a thriving infant: maternal heterodisomy for chromosome 16
Lindor, N M, Jalal, S M, Thibodeau, S N, Bonde, D, Sauser, K L, Karnes, P S
Published in Clinical genetics (01.10.1993)
Published in Clinical genetics (01.10.1993)
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Journal Article
Cytogenetic testing for Williams syndrome
Jalal, S M, Crifasi, P A, Karnes, P S, Michels, V V
Published in Mayo Clinic proceedings (01.01.1996)
Published in Mayo Clinic proceedings (01.01.1996)
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Journal Article
Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes
Hol, Frans A., Schepens, Marga T., van Beersum, Sylvia E.C., Redolfi, Elena, Affer, Maurizio, Vezzoni, Paolo, Hamel, Ben C.J., Karnes, Pamela S., Mariman, Edwin C.M., Zucchi, Ileana
Published in Genomics (San Diego, Calif.) (15.10.2000)
Published in Genomics (San Diego, Calif.) (15.10.2000)
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Journal Article
New skeletal dysplasia with unique brachydactyly
Mononen, T K, Karnes, P S, Senac, Jr, M O, Falk, R E
Published in American journal of medical genetics (01.03.1992)
Published in American journal of medical genetics (01.03.1992)
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Journal Article
Familial splenomegaly : Macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (Δ149 Leu)]
NGUYEN, T. U. T, KRUCKEBERG, Kent E, O'BRIEN, John F, JI, Zhong-Sheng, KARNES, Pamela S, CROTTY, Thomas B, HAY, Ian D, MAHLEY, Robert W, O'BRIEN, Timothy
Published in The journal of clinical endocrinology and metabolism (01.11.2000)
Published in The journal of clinical endocrinology and metabolism (01.11.2000)
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Journal Article
Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY,t(11;22)(p15.5;q11.23)
Karnes, Pamela S., Tran, Tuan N., Cui, Mei Ying, Bogenmann, Emil, Shimada, Hiroyuki, Ying, Kuang Lin
Published in Cancer genetics and cytogenetics (01.10.1991)
Published in Cancer genetics and cytogenetics (01.10.1991)
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Journal Article
Conference Proceeding
Uniparental disomy in congenital disorders: a prospective study
Lindor, N M, Karnes, P S, Michels, V V, Dewald, G W, Goerss, J, Jalal, S, Jenkins, R B, Vockley, G, Thibodeau, S N
Published in American journal of medical genetics (28.08.1995)
Published in American journal of medical genetics (28.08.1995)
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