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Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Human mutation, 2003-10, Vol.22 (4), p.313-325

2003

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Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

The Journal of clinical investigation, 2000-01, Vol.105 (2), p.191-198

2000

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Neurofibromatosis: A Common Neurocutaneous Disorder

Mayo Clinic proceedings, 1998-11, Vol.73 (11), p.1071-1076

Karnes, Pamela S.

1998

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Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

Journal of medical genetics, 2007-04, Vol.44 (4), p.e75-e75

2007

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von Hippel-Lindau disease

Mayo Clinic proceedings, 2000-03, Vol.75 (3), p.265-272

2000

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Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes

Genomics (San Diego, Calif.), 2000-10, Vol.69 (2), p.174-181

2000

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Liposuction: A Less Invasive Surgical Method of Debulking Plexiform Neurofibromas

Dermatologic surgery, 2003-07, Vol.29 (7), p.785-787

2003

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Familial Occurrence of Carcinoid Tumors and Association with Other Malignant Neoplasms

Cancer epidemiology, biomarkers & prevention, 1999-08, Vol.8 (8), p.715-719

1999

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Familial splenomegaly : Macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (Δ149 Leu)]

The journal of clinical endocrinology and metabolism, 2000-11, Vol.85 (11), p.4354-4358

2000

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Familial Splenomegaly: Macrophage Hypercatabolism of Lipoproteins Associated with Apolipoprotein E Mutation [Apolipoprotein E (Δ149 Leu)]

The journal of clinical endocrinology and metabolism, 2000-11, Vol.85 (11), p.4354-4358

2000

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von Hippel-Lindau Disease

Mayo Clinic proceedings, 2000, Vol.75 (3), p.265-272

2000

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Jarcho-Levin syndrome: Four new cases and classification of subtypes

American journal of medical genetics, 1991-09, Vol.40 (3), p.264-270

1991

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Liposuction: A Less Invasive Surgical Method of Debulking Plexiform Neurofibromas

Dermatologic surgery, 2003-07, Vol.29 (7), p.785-787

2003

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Ordering and Interpreting DNA Tests

Mayo Clinic proceedings, 1996-12, Vol.71 (12), p.1192-1195

Karnes, Pamela S.

1996

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Initial Assessment of Infants and Children With Suspected Inborn Errors of Metabolism

Mayo Clinic proceedings, 1995-10, Vol.70 (10), p.987-988

1995

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Valvular heart disease in four patients with Maroteaux-Lamy syndrome

Circulation (New York, N.Y.), 1992, Vol.85 (1), p.188-195

1992

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Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Clinical genetics, 1993-10, Vol.44 (4), p.185-189

1993

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Cytogenetic Testing for Williams Syndrome

Mayo Clinic proceedings, 1996-01, Vol.71 (1), p.67-68

1996

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Fluorescent In Situ Hybridization: Use of Whole Chromosome Paint Probes to Identify Unbalanced Chromosome Translocations

Mayo Clinic proceedings, 1992-07, Vol.67 (7), p.658-662

1992

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Human Prenatal Diagnosis

Mayo Clinic Proceedings, 1991, Vol.66 (10), p.1091-1092

Karnes, Pamela S.

1991

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New skeletal dysplasia with unique brachydactyly

American journal of medical genetics, 1992-03, Vol.42 (5), p.706-713

1992

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Familial recurrence of tracheoesophageal fistula and associated malformations

American journal of medical genetics, 1996-06, Vol.63 (4), p.525-528

1996

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Cytogenetic analysis of 39 pediatric central nervous system tumors

Cancer genetics and cytogenetics, 1992, Vol.59 (1), p.12-19

1992

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Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY,t(11;22)(p15.5;q11.23)

Cancer genetics and cytogenetics, 1991-10, Vol.56 (1), p.31-38

1991

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Uniparental disomy in congenital disorders: A prospective study

American journal of medical genetics, 1995-08, Vol.58 (2), p.143-146

1995

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Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Neurofibromatosis: A Common Neurocutaneous Disorder

Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

von Hippel-Lindau disease

Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes

Liposuction: A Less Invasive Surgical Method of Debulking Plexiform Neurofibromas

Familial Occurrence of Carcinoid Tumors and Association with Other Malignant Neoplasms

Familial splenomegaly : Macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (Δ149 Leu)]

Familial Splenomegaly: Macrophage Hypercatabolism of Lipoproteins Associated with Apolipoprotein E Mutation [Apolipoprotein E (Δ149 Leu)]

von Hippel-Lindau Disease

Jarcho-Levin syndrome: Four new cases and classification of subtypes

Liposuction: A Less Invasive Surgical Method of Debulking Plexiform Neurofibromas

Ordering and Interpreting DNA Tests

Initial Assessment of Infants and Children With Suspected Inborn Errors of Metabolism

Valvular heart disease in four patients with Maroteaux-Lamy syndrome

Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16

Cytogenetic Testing for Williams Syndrome

Fluorescent In Situ Hybridization: Use of Whole Chromosome Paint Probes to Identify Unbalanced Chromosome Translocations

Human Prenatal Diagnosis

New skeletal dysplasia with unique brachydactyly

Familial recurrence of tracheoesophageal fistula and associated malformations

Cytogenetic analysis of 39 pediatric central nervous system tumors

Establishment of a rhabdoid tumor cell line with a specific chromosomal abnormality, 46,XY,t(11;22)(p15.5;q11.23)

Uniparental disomy in congenital disorders: A prospective study

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