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1

ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

Barclay, Sarah F., Rand, Casey M., Nguyen, Lisa, Wilson, Richard J. A., Wevrick, Rachel, Gibson, William T., Bech-Hansen, N. Torben, Weese-Mayer, Debra E.

Journal:

Orphanet Journal of Rare Diseases

Année:

2018

Langue:

english

Fichier:

PDF, 616 KB

english, 2018

2

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

Kym M. Boycott, Malcolm I. Parslow, Judith L. Ross, Ivan P. Miller, N. Torben Bech-Hansen, Patrick M. MacLeod

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 279 KB

english, 2003

3

Unique disease heritage of the Dutch-German Mennonite population

Noelle C. Orton, A. Micheil Innes, Albert E. Chudley, N. Torben Bech-Hansen

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 324 KB

english, 2008

4

Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology

Mary A. Raven, Noelle C. Orton, Hadi Nassar, Gary A. Williams, William K. Stell, Gerald H. Jacobs, N. Torben Bech-Hansen, Benjamin E. Reese

Journal:

The Journal of Comparative Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 3.88 MB

english, 2008

5

Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology

Mary E. Raven, Noelle C. Orton, Hadi Nassar, Gary A. Williams, William K. Stell, Gerald H. Jacobs, N. Torben Bech-Hansen, Benjamin E. Reese

Journal:

The Journal of Comparative Neurology

Année:

2008

Fichier:

PDF, 464 KB

2008

6

Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology

Mary E. Raven, Noelle C. Orton, Hadi Nassar, Gary A. Williams, William K. Stell, Gerald H. Jacobs, N. Torben Bech-Hansen, Benjamin E. Reese

Journal:

The Journal of Comparative Neurology

Année:

2008

Fichier:

PDF, 463 KB

2008

7

Restriction fragment length polymorphisms associated with immunoglobulin heavy chain gamma genes in Tunisians

Hassen Chaabani, N. Torben Bech-Hansen, Diane W. Cox

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 461 KB

english, 1986

8

Isolation and characterization of the leucine-rich proteoglycannyctalopingene (cNyx) from chick

N. Torben Bech-Hansen, Josh Cockfield, Dan Liu, C. Cairine Logan

Journal:

Mammalian Genome

Année:

2005

Langue:

english

Fichier:

PDF, 434 KB

english, 2005

9

10.1038/81619

Bech-Hansen, N.Torben, Naylor, Margaret J., Maybaum, Tracy A., Sparkes, Rebecca L., Koop, Ben, Birch, David G., Bergen, Arthur A.B., Prinsen, Clemens F.M., Polomeno, Robert C., Gal, Andreas, Drack, Ar

Journal:

Nature Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 2.59 MB

english, 2000

10

10.1038/947

Bech-Hansen, N. Torben, Naylor, Margaret J., Maybaum, Tracy A., Pearce, William G., Koop, Ben, Fishman, Gerald A., Mets, Marilyn, Musarella, Maria A., Boycott, Kym M.

Journal:

Nature Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 176 KB

english, 1998

11

Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP)

Kevin J Cummings, Cherise Klotz, Wei-Qiao Liu, Debra E Weese-Mayer, Mary L Marazita, Margaret E Cooper, Elizabeth M Berry-Kravis, Rose Tobias, Cameron Goldie, N Torben Bech-Hansen, Richard JA Wilson

Journal:

Acta Paediatrica

Année:

2009

Langue:

english

Fichier:

PDF, 223 KB

english, 2009

12

Clustered Organization of Krüppel Zinc-Finger Genes at Xp11.23, Flanking a Translocation Breakpoint at OATL1: A Physical Map with Locus Assignments for ZNF21, ZNF41, ZNF81, and ELK1

Jennifer C. Knight, Giovanna Grimaldi, Hans-Jürgen Thiesen, N.Torben Bech-Hansen, Christopher D.M. Fletcher, Michael P. Coleman

Journal:

Année:

1994

Fichier:

PDF, 613 KB

1994

13

A 2-Megabase Physical Contig Incorporating 43 DNA Markers on the Human X Chromosome at p11.23–p11.22 from ZNF21 to DXS255

Kym M. Boycott, George R. Halley, David Schlessinger, N.Torben Bech-Hansen

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 160 KB

english, 1996

14

Isolation and Characterization of a Calcium Channel Gene, Cacna1f, the Murine Orthologue of the Gene for Incomplete X-Linked Congenital Stationary Night Blindness

Margaret J. Naylor, Derrick E. Rancourt, N.Torben Bech-Hansen

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 115 KB

english, 2000

15

Acute leukemia after radiotherapy in a patient with Turcot's syndrome: Impaired colony formation in skin fibroblast cultures after irradiation

Frederick P. Li, John B. Little, N.Torben Bech-Hansen, Malcolm C. Paterson, Colin Arlett, Marc B. Garnick, Robert J. Mayer

Journal:

The American Journal of Medicine

Année:

1983

Langue:

english

Fichier:

PDF, 697 KB

english, 1983

16

The CaV1.4 Calcium Channel Is a Critical Regulator of T Cell Receptor Signaling and Naive T Cell Homeostasis

Kyla Omilusik, John J. Priatel, Xiaoxi Chen, Yiwen Teresa Wang, Hongjian Xu, Kyung Bok Choi, Rayshad Gopaul, Adam McIntyre-Smith, Hung-Sia Teh, Rusung Tan, N. Torben Bech-Hansen, Douglas Waterfield, D

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 1.51 MB

english, 2011

17

Physical map covering a 2 Mb region in human Xp11.3 distal to DX6849

Karen L Stoddart, Chris Jermak, Ramaiah Nagaraja, David Schlessinger, N.Torben Bech-Hansen

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 147 KB

english, 1999

18

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Kym M. Boycott, William G. Pearce, Maria A. Musarella, Richard G. Weleber, Tracy A. Maybaum, David G. Birch, Yozo Miyake, Rockefeller S.L. Young, N. Torben Bech-Hansen

Journal:

The American Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 407 KB

english, 1998

19

TRANSMISSION OF IN-VITRO RADIORESISTANCE IN A CANCER-PRONE FAMILY

Torben Bech-Hansen, N., Sell, BrendaM., Lampkin, BeatriceC., Blattner, WilliamA., Mckeen, ElisabethA., Fraumeni, JosephF., Paterson, MalcolmC.

Journal:

Année:

1981

Langue:

english

Fichier:

PDF, 450 KB

english, 1981

20

Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7

Bech-Hansen, N.Torben, Moore, Brenda J., Pearce, William G.

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 402 KB

english, 1992

21

[Part 1: Biological Sciences] || Analysis of a Break in Chromosome 14 Mapping to the Region of the Immunoglobulin Heavy Chain Locus

Peter S. Linsley, N. Torben Bech-Hansen, Louis Siminovitch and Diane W. Cox

Journal:

Proceedings of the National Academy of Sciences

Année:

1983

Langue:

english

Fichier:

PDF, 1.37 MB

english, 1983

22

[Part 1: Biological Sciences] || Restriction Fragment Length Polymorphisms Associated with Immunoglobulin CγGenes Reveal Linkage Disequilibrium and Genomic Organization

N. Torben Bech-Hansen, Peter S. Linsley and Diane W. Cox

Journal:

Proceedings of the National Academy of Sciences

Année:

1983

Langue:

english

Fichier:

PDF, 1.43 MB

english, 1983

23

Impaired Colony-Forming Ability Following γ Irradiation of Skin Fibroblasts from Tuberous Sclerosis Patients

Malcolm C. Paterson, Brenda M. Sell, Blake P. Smith and N. Torben Bech-Hansen

Journal:

Radiation Research

Année:

1982

Langue:

english

Fichier:

PDF, 981 KB

english, 1982

24

Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

Boycott, Kym M., Pearce, William G., Bech-Hansen, N. Torben

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Année:

2000

Langue:

english

Fichier:

PDF, 1023 KB

english, 2000

25

Developmental topographical disorientation and decreased hippocampal functional connectivity

Iaria, Giuseppe, Arnold, Aiden E.G.F., Burles, Ford, Liu, Irene, Slone, Edward, Barclay, Sarah, Bech-Hansen, Torben N., Levy, Richard M.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 287 KB

english, 2014

26

Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome

Barrett, Karlene T, Rodikova, Ekaterina, Weese-Mayer, Debra E, Rand, Casey M, Marazita, Mary L, Cooper, Margaret E, Berry-Kravis, Elizabeth M, Bech-Hansen, N Torben, Wilson, Richard JA

Journal:

Acta Paediatrica

Année:

2013

Langue:

english

Fichier:

PDF, 148 KB

english, 2013

27

Serotonin Transporter Gene Promoter Region Polymorphism Associated With Poststroke Major Depression

Ramasubbu, Rajamannar, Tobias, Rose, Buchan, Alastair M., Bech-Hansen, N. Torben

Journal:

Journal of Neuropsychiatry

Année:

2006

Langue:

english

Fichier:

PDF, 66 KB

english, 2006

28

Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation: Analysis of Hypothalamic and Autonomic Candidate Genes

Rand, Casey M, Patwari, Pallavi P, Rodikova, Ekaterina A, Zhou, Lili, Berry-Kravis, Elizabeth M, Wilson, Richard J A, Bech-Hansen, Torben, Weese-Mayer, Debra E

Journal:

Pediatric Research

Année:

2011

Langue:

english

Fichier:

PDF, 177 KB

english, 2011

29

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD

Barclay, Sarah F., Rand, Casey M., Gray, Paul A., Gibson, William T., Wilson, Richard J.A., Berry-Kravis, Elizabeth M., Ize-Ludlow, Diego, Bech-Hansen, N. Torben, Weese-Mayer, Debra E.

Journal:

Respiratory Physiology & Neurobiology

Année:

2016

Langue:

english

Fichier:

PDF, 388 KB

english, 2016

30

Radiogenic Male Breast Cancer with in Vitro Sensitivity to Ionizing Radiation and Bleomycin

Greene, Mark H., Goedert, James J., Bech-Hansen, N. Torben, McGuire, Deborah, Paterson, Malcolm C., Fraumeni, Joseph F.

Journal:

Cancer Investigation

Année:

1983

Langue:

english

Fichier:

PDF, 613 KB

english, 1983

31

Amygdala responses to quetiapine XR and citalopram treatment in major depression: the role of 5-HTTLPR-S/Lg polymorphisms

Ramasubbu, Rajamannar, Burgess, Ashley, Gaxiola-Valdez, Ismael, Cortese, Filomeno, Clark, Darren, Kemp, Anne, Goodyear, Bradley, Macqueen, Glenda, Bech-Hansen, N. Torben, Foster, Jane, Diwadkar, Vaibh

Journal:

Human Psychopharmacology: Clinical and Experimental

Année:

2016

Langue:

english

Fichier:

PDF, 310 KB

english, 2016

32

Transcriptional activity of the human tissue inhibitor of metalloproteinases 1 (TIMP-1) gene in fibroblasts involves elements in the promoter, exon 1 and intron 1

CLARK, Ian M., ROWAN, Andrew D., EDWARDS, Dylan R., BECH-HANSEN, Torben, MANN, Derek A., BAHR, Matthias J., CAWSTON, Timothy E.

Journal:

Biochemical Journal

Année:

1997

Langue:

english

Fichier:

PDF, 672 KB

english, 1997

33

Familial aggregation in developmental topographical disorientation (DTD)

Barclay, Sarah F., Burles, Ford, Potocki, Kendra, Rancourt, Kate M., Nicolson, Mary Lou, Bech-Hansen, N. Torben, Iaria, Giuseppe

Journal:

Cognitive Neuropsychology

Année:

2016

Langue:

english

Fichier:

PDF, 1.17 MB

english, 2016

34

Report of the Sixth International Workshop on Human X Chromosome Mapping 1995

Bech-Hansen, Torben

Journal:

Cytogenetic and Genome Research

Année:

1995

Langue:

english

Fichier:

PDF, 7.35 MB

english, 1995

35

813 PRENATAL DIAGNOSIS AND GENETIC RISK IN ALPHA1 ANTITRYPSIN DEFICIENCY PI TYPE ZZ

Cox, Diane W, Mansfield, Tammy, Bech-Hansen, Torben

Journal:

Pediatric Research

Année:

1985

Langue:

english

Fichier:

PDF, 160 KB

english, 1985

36

Rapid Assays for Evaluating the Drug Sensitivity of Tumor Cells2

Bech-Hansen, N. Torben, Sarangi, Farida, Sutherland, Donald J. A., Ling, Vic

Journal:

JNCI Journal of the National Cancer Institute

Année:

1977

Langue:

english

Fichier:

PDF, 759 KB

english, 1977

37

Extended Evaluation of Serotonin Transporter Gene Functional Polymorphisms in Subjects with Post-Stroke Depression

Ramasubbu, Rajamannar, Tobias, Rose, Bech-Hansen, N Torben

Journal:

The Canadian Journal of Psychiatry

Année:

2008

Langue:

english

Fichier:

PDF, 71 KB

english, 2008

38

Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

Hove, Marianne N., Kilic-Biyik, Kevser Z., Trotter, Alana, Grønskov, Karen, Sander, Birgit, Larsen, Michael, Carroll, Joseph, Bech-Hansen, Torben, Rosenberg, Thomas

Journal:

Investigative Opthalmology & Visual Science

Année:

2016

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2016

39

A Novel CACNA1F Gene Mutation Causes Åland Island Eye Disease

Jalkanen, Reetta, Bech-Hansen, N. Torben, Tobias, Rose, Sankila, Eeva-Marja, Ma¨ntyja¨rvi, Maija, Forsius, Henrik, de la Chapelle, Albert, Alitalo, Tiina

Journal:

Investigative Ophthalmology & Visual Science

Année:

2007

Langue:

english

Fichier:

PDF, 182 KB

english, 2007

40

Avian Adeno-Associated Viral Transduction of the Postembryonic Chicken Retina

Waldner, Derek M., Visser, Frank, Fischer, Andy J., Bech-Hansen, N. Torben, Stell, William K.

Journal:

Translational Vision Science & Technology

Année:

2019

Langue:

english

Fichier:

PDF, 1.35 MB

english, 2019

41

Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A)

Waldner, Derek M., Ito, Kenichi, Chen, Li-Li, Nguyen, Lisa, Chow, Robert L., Lee, Amy, Rancourt, Derrick E., Tremblay, Francois, Stell, William K., Bech-Hansen, N. Torben

Journal:

Translational Vision Science & Technology

Année:

2020

Fichier:

PDF, 5.06 MB

2020