D.H. Viskochil: search on Z-Library

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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

Psychiatric Comorbidity and Medication Use in Adults with Autism Spectrum Disorder

Buck, Tara R., Viskochil, Joseph, Farley, Megan, Coon, Hilary, McMahon, William M., Morgan, Jubel, Bilder, Deborah A.

Journal:

Journal of Autism and Developmental Disorders

Year:

2014

Language:

english

File:

PDF, 304 KB

english, 2014

5

Deep phenotyping of patients with tuberous sclerosis complex and no mutation identified in Tsc1 and Tsc2

Peron, Angela, Vignoli, Aglaia, Briola, Francesca La, Morenghi, Emanuela, Tansini, Lucia, Alfano, Rosa Maria, Bulfamante, Gaetano, Terraneo, Silvia, Ghelma, Filippo, Banderali, Giuseppe, Viskochil, Da

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 2.37 MB

english, 2018

6

Metformin May Blunt Beneficial Effects Of Exercise Training On Cancer-related Biomarkers In Women With Prediabetes

Viskochil, Richard, Laurin, Jaime, Malin, Steven K., Blankenship, Jennifer M., Braun, Barry

Journal:

Medicine & Science in Sports & Exercise

Year:

2015

Language:

english

File:

PDF, 418 KB

english, 2015

7

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

8

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

9

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

10

The Neurofibromatosis Type 1 Gene

Viskochil, D, White, R, Cawthon, R

Journal:

Annual Review of Neuroscience

Year:

1993

Language:

english

File:

PDF, 874 KB

english, 1993

11

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

12

Sildenafil Does Not Improve Peak Exercise Capacity During Acute Hypoxia In Trained Men Or Women.

Kressler, Jochen, Stoutenberg, Mark, Roos, Bernard, Friedlander, Anne L., Perry, Arlette C., Signorile, Joseph, Viskochil, Richard, Jacobs, Kevin A.

Journal:

Medicine & Science in Sports & Exercise

Year:

2010

Language:

english

File:

PDF, 74 KB

english, 2010

13

Men And Women Exhibit Similar Declines In Peak Exercise Capacity And Performance At Simulated Altitudes

Viskochil, Richard, Kressler, Jochen, Stoutenberg, Mark, Roos, Bernard, Friedlander, Anne L., Perry, Arlette C., Signorile, Joseph, Jacobs, Kevin Allen

Journal:

Medicine & Science in Sports & Exercise

Year:

2010

Language:

english

File:

PDF, 53 KB

english, 2010

14

Sildenafil Does Not Improve Performance At Simulated High Or Moderate Altitudes In Men Or Women

Stoutenberg, Mark, Kressler, Jochen, Roos, Bernard, Friedlander, Anne L., Viskochil, Richard, Signorile, Joseph F., Jacobs, Kevin A.

Journal:

Medicine & Science in Sports & Exercise

Year:

2010

Language:

english

File:

PDF, 53 KB

english, 2010

15

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

16

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

17

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

18

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

19

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

20

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

21

Neurofibromatosis 1

Viskochil, Dave

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 115 KB

english, 1999

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

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

31

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

32

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

33

Fetus with interstitial del(5)(p13.1p14.2) diagnosed postnatally with Cornelia de Lange syndrome

R. Hulinsky, J.L.B. Byrne, A. Lowichik, D.H. Viskochil

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 101 KB

english, 2005

34

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

35

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

36

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

37

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

38

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

39

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

40

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

41

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

42

A point mutation associated with a severe phenotype of neurofibromatosis 2

Dr M. MaCcollin, Kevin Davis, N. Braverman, D. Viskochil, M. Ruttledge, R. Ojemann, J. Gusella, D. M. Parry

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 563 KB

english, 1996

43

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

44

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

45

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

46

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

47

Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype

DA Stevenson, DH Viskochil, AF Rope, JC Carey

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 2.39 MB

english, 2006

48

Bone resorption in syndromes of the Ras/MAPK pathway

DA Stevenson, EL Schwarz, JC Carey, DH Viskochil, H Hanson, S Bauer, H-Y Cindy Weng, T Greene, K Reinker, J Swensen, RJ Chan, F-C Yang, L Senbanjo, Z Yang, R Mao, M Pasquali

Journal:

Clinical Genetics

Year:

2011

Language:

english

File:

PDF, 1.05 MB

english, 2011

49

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

50

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