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Author/Creator Cohn, Daniel H

1. A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen. (6th April 2017)

Authors:
Duran, Ivan; Martin, Jorge H; Weis, Mary Ann; Krejci, Pavel; Konik, Peter; Li, Bing; Alanay, Yasemin; Lietman, Caressa; Lee, Brendan; Eyre, David; Cohn, Daniel H; Krakow, Deborah
Journal:
Journal of bone and mineral research
Issue:
Volume 32:Number 6(2017:Jun.)
Page Start:
1309
Record Type:
Journal Article
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2. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Issue 2 (26th June 2006)

Authors:
Bicknell, Louise S; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G; Prontera, Paolo; de Ravel, Thomy; Fryn...
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 2(2007)
Page Start:
89
Record Type:
Journal Article
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4. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. Issue 11 (14th October 2020)

Authors:
Bosakova, Michaela; Abraham, Sara P; Nita, Alexandru; Hruba, Eva; Buchtova, Marcela; Taylor, S Paige; Duran, Ivan; Martin, Jorge; Svozilova, Katerina; Barta, Tomas; Varecha, Miroslav; Balek, Lukas; Kohoutek, Jiri; Radaszkiewicz, Tomasz; Pusapati, Ganesh V; Bryja, Vitezslav; Rush, Eric T; Thiffaul...
Journal:
EMBO molecular medicine
Issue:
Volume 12:Issue 11(2020)
Page Start:
n/a
Record Type:
Journal Article
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5. Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. Issue 4 (1st April 2000)

Authors:
Mortier, Geert R; Weis, MaryAnn; Nuytinck, Lieve; King, Lily M; Wilkin, Douglas J; De Paepe, Anne; Lachman, Ralph S; Rimoin, David L; Eyre, David R; Cohn, Daniel H
Journal:
Journal of medical genetics
Issue:
Volume 37:Issue 4(2000)
Page Start:
263
Record Type:
Journal Article
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6. The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. Issue 4 (30th March 2007)

Authors:
Nishimura, Gen; Nakashima, Eiji; Hirose, Yuichiro; Cole, Trevor; Cox, Phillip; Cohn, Daniel H; Rimoin, David L; Lachman, Ralph S; Miyamoto, Yoshinari; Kerr, Bronwyn; Unger, Sheila; Ohashi, Hirofumi; Superti-Furga, Andrea; Ikegawa, Shiro
Journal:
Journal of medical genetics
Issue:
Volume 44:Issue 4(2007)
Page Start:
e73
Record Type:
Journal Article
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7. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. Issue 6 (15th December 2015)

Authors:
Aldinger, Kimberly A; Mendelsohn, Nancy J; Chung, Brian HY; Zhang, Wenjuan; Cohn, Daniel H; Fernandez, Bridget; Alkuraya, Fowzan S; Dobyns, William B; Curry, Cynthia J
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 6(2016)
Page Start:
427
Record Type:
Journal Article
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