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1

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

Richard M. Cawthon, Robert Weiss, Gangfeng Xu, David Viskochil, Melanie Culver, Jeff Stevens, Margaret Robertson, Diane Dunn, Ray Gesteland, Peter O'Connell, Ray White

Journal:

Year:

1990

Language:

english

File:

PDF, 1.36 MB

english, 1990

2

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss

DeMille, Desiree, Carlston, Colleen M., Tam, Oliver H., Palumbos, Janice C., Stalker, Heather J., Mao, Rong, Zori, Roberto T., Viskochil, David H., Park, Albert H., Carey, John C.

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 901 KB

english, 2018

3

Cassidy and Allanson's Management of Genetic Syndromes || 47,XXY (KLINEFELTER SYNDROME) AND RELATED X AND Y CHROMOSOMAL CONDITIONS

Carey, John C., Battaglia, Agatino, Viskochil, David, Cassidy, Suzanne B.

Year:

2021

File:

PDF, 351 KB

2021

4

Peripheral muscle weakness in RASopathies

David A. Stevenson, Shawn Allen, William E. Tidyman, John C. Carey, David H. Viskochil, Austin Stevens, Heather Hanson, Xiaoming Sheng, Brandi A. Thompson, Megumi J. Okumura, Kent Reinker, Barbara Joh

Journal:

Year:

2012

Language:

english

File:

PDF, 121 KB

english, 2012

5

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus

David Viskochil, Arthur M. Buchberg, Gangfeng Xu, Richard M. Cawthon, Jeffrey Stevens, Roger K. Wolff, Melanie Culver, John C. Carey, Neal G. Copeland, Nancy A. Jenkins, Ray White, Peter O'Connell

Journal:

Year:

1990

Language:

english

File:

PDF, 1.12 MB

english, 1990

6

Neurofibromatosis: Etiology, Commonly Encountered Spinal Deformities, Common Complications and Pitfalls of Surgical Treatment

Crawford, Alvin H., Lykissas, Marios G., Schorry, Elizabeth K., Gaines, Sean, Jain, Viral, Greggi, Tiziani, Viskochil, David

Journal:

Spine Deformity

Year:

2012

Language:

english

File:

PDF, 4.06 MB

english, 2012

7

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1

Sites, Emily R., Smolarek, Teresa A., Martin, Lisa J., Viskochil, David H., Stevenson, David A., Ullrich, Nicole J., Messiaen, Ludwine M., Schorry, Elizabeth K.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 296 KB

english, 2016

8

Cassidy and Allanson's Management of Genetic Syndromes || DOWN SYNDROME

Carey, John C., Battaglia, Agatino, Viskochil, David, Cassidy, Suzanne B.

Year:

2021

File:

PDF, 374 KB

2021

9

Cassidy and Allanson's Management of Genetic Syndromes || TREACHER COLLINS SYNDROME AND RELATED DISORDERS

Carey, John C., Battaglia, Agatino, Viskochil, David, Cassidy, Suzanne B.

Year:

2021

File:

PDF, 147 KB

2021

10

Aprosencephaly and cerebellar dysgenesis in sibs

Florell, Scott R., Townsend, Jeannette J., Klatt, Edward C., Pysher, Theodore J., Coffin, Cheryl M., Wittwer, Carl T., Viskochil, David H.

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 751 KB

1996

11

Familial ring (19) chromosome mosaicism: Case report and review

Flejter, Wendy L., Finlinson, Dana, Root, Susan, Nguyen, Wayne, Brothman, Arthur R., Viskochil, David

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 454 KB

english, 1996

12

Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata

Leppig, Kathleen A., Kaplan, Paige, Viskochil, David, Weaver, Molly, Ortenberg, June, Stephens, Karen

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 191 KB

english, 1997

13

Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders

Carey, John C., Viskochil, David H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 98 KB

english, 1999

14

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1

Stevenson, David A., Birch, Patricia H., Friedman, J.M., Viskochil, David H., Balestrazzi, Paolo, Boni, Stefania, Buske, Annegret, Korf, Bruce R., Niimura, Michihito, Pivnick, Eniko K., Schorry, Eliza

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 251 KB

english, 1999

15

X-linked lissencephaly with absent corpus callosum and ambiguous genitalia

Dobyns, William B., Berry-Kravis, Elizabeth, Havernick, Nancy J., Holden, Kenton R., Viskochil, David

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 385 KB

english, 1999

16

Growth failure, intracranial calcifications, acquired pancytopenia, and unusual humoral immunodeficiency: A genetic syndrome?

Elisabeth E. Adderson, David H. Viskochil, John C. Carey, Ann O. Shigeoka, John C. Christenson, John F. Bohnsack, Harry R. Hill

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 121 KB

english, 2000

17

Gastrointestinal complications of Russell-Silver syndrome: A pilot study

Jeff Anderson, David Viskochil, Molly O'Gorman, Chad Gonzales

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

18

Status of the human malformation map: 2002

John C. Carey, David H. Viskochil

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 226 KB

english, 2002

19

Congenital hypoplastic (Diamond-Blackfan) anemia in seven members of one kindred

David H. Viskochil, John C. Carey, Bertil E. Glader, Gerald Rothstein, Robert D. Christensen

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 593 KB

english, 1990

20

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q

Shelly R. Gunn, Mansoor Mohammed, Xavier T. Reveles, David H. Viskochil, Janice C. Palumbos, Teresa L. Johnson-Pais, Daniel E. Hale, Jack L. Lancaster, L. Jean Hardies, Odile Boespflug-Tanguy, Jannine

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 466 KB

english, 2003

21

Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1

Cheryl M. Coffin, Jamie Cassity, David Viskochil, R. Lor Randall, Karen Albritton

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 54 KB

english, 2004

22

Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinemia (LACH) in two brothers: A novel syndrome?

Joshua L. Bonkowsky, John F. Bohnsack, Mary J. Pennington, David Viskochil, Joel A. Thompson

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 187 KB

english, 2004

23

Elevated catecholamine metabolites in patients with Costello syndrome

Karen W. Gripp, Hiroshi Kawame, David H. Viskochil, Linda Nicholson

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 55 KB

english, 2004

24

Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association

Cammon B. Arrington, Brett C. Cowley, Daniel R. Nightingale, Holly Zhou, Arthur R. Brothman, David H. Viskochil

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 159 KB

english, 2005

25

Neurofibromatosis type 1 is a genetic skeletal disorder

David A. Stevenson, David H. Viskochil, John C. Carey

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 66 KB

english, 2007

26

Brain anomalies in encephalocraniocutaneous lipomatosis

Ute Moog, Marilyn C. Jones, David H. Viskochil, Alain Verloes, Margot I. Van Allen, William B. Dobyns

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 245 KB

english, 2007

27

Status of the human malformation map: 2007

John C. Carey, David H. Viskochil

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 290 KB

english, 2007

28

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options

Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 289 KB

english, 2009

29

Speech–language characteristics of children with neurofibromatosis type 1

Heather L. Thompson, David H. Viskochil, David A. Stevenson, Kathy L. Chapman

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 103 KB

english, 2010

30

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1

Talia M. Muram-Zborovski, Cecily P. Vaughn, David H. Viskochil, Heather Hanson, Rong Mao, David A. Stevenson

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 307 KB

english, 2010

31

Variable expression of neurofibromatosis 1 in monozygotic twins

Margaret B. Rieley, David A. Stevenson, David H. Viskochil, Brad T. Tinkle, Lisa J. Martin, Elizabeth K. Schorry

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 228 KB

english, 2011

32

Disorders of the Ras pathway: An introduction

David H. Viskochil

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2011

Language:

english

File:

PDF, 71 KB

english, 2011

33

A chromosome jump crosses a translocation breakpoint in the von recklinghausen neurofibromatosis region

Margaret R. Wallace, Lone B. Andersen, Jane W. Fountain, Hana M. Odeh, David Viskochil, Douglas A. Marchuk, Peter O'Connell, Ray White, Dr. Francis S. Collins

Journal:

Genes, Chromosomes and Cancer

Year:

1990

Language:

english

File:

PDF, 555 KB

english, 1990

34

Preaxial ray reduction defects as part of valproic acid embryofetopathy

Reuven Sharony, Ann Garber, David Viskochil, Rhona Schreck, Lawrence D. Platt, Robert Ward, Bruce A. Buehler, Dr John M. Graham Jr

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 786 KB

english, 1993

35

Peripheral Nerve Sheath Tumors from Patients with Neurofibromatosis Type 1 Do Not Have the Chromosomal Translocation t(X;18)

Michael A. Liew, Cheryl M. Coffin, Jonathan A. Fletcher, Minh-Thu N. Hang, Katsumi Tanito, Michihito Niimura, David Viskochil

Journal:

Pediatric and Developmental Pathology

Year:

2002

Language:

english

File:

PDF, 351 KB

english, 2002

36

RNA and protein evidence for haplo-insufficiency in Diamond–Blackfan anaemia patients with RPS19 mutations

Hanna T. Gazda, Rong Zhong, Lilia Long, Edyta Niewiadomska, Jeffrey M. Lipton, Anna Ploszynska, Jan M. Zaucha, Adrianna Vlachos, Evangelia Atsidaftos, David H. Viskochil, Charlotte M. Niemeyer, Joerg

Journal:

British Journal of Haematology

Year:

2004

Language:

english

File:

PDF, 244 KB

english, 2004

37

10.1038/86898

Costa, Rui M., Yang, Tao, Huynh, Duong P., Pulst, Stefan M., Viskochil, David H., Silva, Alcino J., Brannan, Camilynn I.

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 385 KB

english, 2001

38

Identification of NF1 mutations in both alleles of a dermal neurofibroma

Sawada, Shun'ichi, Florell, Scott, Purandare, Smita M., Ota, Mayumi, Stephens, Karen, Viskochil, David

Journal:

Nature Genetics

Year:

1996

File:

PDF, 443 KB

1996

39

Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1

Barbara A. Johnson, Bruce MacWilliams, John C. Carey, David H. Viskochil, Jacques L. D’Astous, David A. Stevenson

Journal:

Human Movement Science

Year:

2012

Language:

english

File:

PDF, 249 KB

english, 2012

40

Bone Mineral Density in Children and Adolescents with Neurofibromatosis Type 1

David A. Stevenson, Laurie J. Moyer-Mileur, Mary Murray, Hillarie Slater, Xiaoming Sheng, John C. Carey, Bukhosi Dube, David H. Viskochil

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 134 KB

english, 2007

41

Identification of Neurofibromatosis 1 (NF1) Homologous Loci by Direct Sequencing, Fluorescence in Situ Hybridization, and PCR Amplification of Somatic Cell Hybrids

Smita M. Purandare, Heidi Huntsman Breidenbach, Ying Li, Xiao Lin Zhu, Shun'ichi Sawada, Shannon M. Neil, Arthur Brothman, Ray White, Richard Cawthon, David Viskochil

Journal:

Year:

1995

File:

PDF, 742 KB

1995

42

Genomic organization of the neurofibromatosis 1 gene (NF1)

Ying Li, Peter O'connell, Heidi Huntsman Breidenbach, Richard Cawthon, Jeff Stevens, Gangfeng Xu, Shannon Neil, Margaret Robertson, Ray White, David Viskochil

Journal:

Year:

1995

Language:

english

File:

PDF, 1.33 MB

english, 1995

43

Tibial geometry in individuals with neurofibromatosis type 1 without anterolateral bowing of the lower leg using peripheral quantitative computed tomography

David A. Stevenson, David H. Viskochil, John C. Carey, Hillarie Slater, Mary Murray, Xiaoming Sheng, Jacques D'Astous, Heather Hanson, Elizabeth Schorry, Laurie J. Moyer-Mileur

Journal:

Year:

2009

Language:

english

File:

PDF, 242 KB

english, 2009

44

The MPS I registry: Design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

Gregory M. Pastores, Pamela Arn, Michael Beck, Joe T.R. Clarke, Nathalie Guffon, Paige Kaplan, Joseph Muenzer, Denise Y.J. Norato, Elsa Shapiro, Janet Thomas, David Viskochil, J. Edmond Wraith

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 735 KB

english, 2007

45

107. Longitudinal study of bone disease and the impact of growth hormone treatment in MPS I, II, and VI

Lynda Polgreen, David Stevenson, Kendra Bjoraker, Bradley Miller, Matthew Deyo, Heather Hanson, Lawrence Charnas, Moira Petit, David Viskochil, Anna Petryk

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

46

144. Gait analysis in 2 cases of Hunter syndrome

David Viskochil, David Stevenson, Carrie Bailey, Barb Johnson, Bruce Mcwilliams

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

47

109. Update on the longitudinal study of bone disease and the impact of growth hormone treatment in MPS I, II, and VI

Lynda Polgreen, David Stevenson, Kendra Bjoraker, Moira Petit, David Viskochil, Chester Whitley

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

48

Longitudinal studies of brain structure and function in MPS disorders: A study of the Lysosomal Disease network

Elsa Shapiro, Julie Eisengart, Igor Nestrasil, Alia Ahmed, Julian Raiman, Robert Steiner, Paul Harmatz, Gerald Berry, Gregory Pastores, Paul Fernhoff, David Viskochil, Kathleen Delaney

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 55 KB

english, 2011

49

Growth data of MPS I patients: MPS I registry analysis

David Viskochil

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

50

Update on the Longitudinal Study of Bone Disease and the Impact of Growth Hormone Treatment in MPS I, II, and VI: Skeletal Outcomes

Lynda Polgreen, Lesley Scibora, Ellen Fung, David Viskochil, David Stevenson, Chester Whitley

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012