PMC Links for Books (Select 2418788) - PMC

Select item 67403951.

Cardiotrophin-Like Cytokine/Cytokine-Like Factor 1 is an Essential Trophic Factor for Lumbar and Facial Motoneurons In Vivo

Nancy G. Forger, David Prevette, Odile deLapeyrière, Béatrice de Bovis, Siwei Wang, Perry Bartlett, Ronald W. Oppenheim

J Neurosci. 2003 Oct 1; 23(26): 8854–8858. doi: 10.1523/JNEUROSCI.23-26-08854.2003

PMCID:: PMC6740395

Article PDF–227K

Select item 65858572.

Schaaf‐Yang syndrome overview: Report of 78 individuals

John McCarthy, Philip J. Lupo, Erin Kovar, Megan Rech, Bret Bostwick, Daryl Scott, Katerina Kraft, Tony Roscioli, Joel Charrow, Samantha A. Schrier Vergano, Edward Lose, Robert Smiegel, Yves Lacassie, Christian P. Schaaf

Am J Med Genet A. 2018 Dec; 176(12): 2564–2574. Published online 2018 Oct 10. doi: 10.1002/ajmg.a.40650

PMCID:: PMC6585857

Article PDF–1.4M

Select item 54293603.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, David N. Cooper

Hum Genet. 2017; 136(6): 665–677. Published online 2017 Mar 27. doi: 10.1007/s00439-017-1779-6

PMCID:: PMC5429360

Article PDF–1.1M

Select item 50995334.

Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity

Bernarda Lozic, Stefan Johansson, Sanja Lovric Kojundzic, Josko Markic, Per Morten Knappskog, Angelika F. Hahn, Helge Boman

Ann Clin Transl Neurol. 2016 Nov; 3(11): 876–883. Published online 2016 Oct 11. doi: 10.1002/acn3.362

PMCID:: PMC5099533

Article PDF–1.8M

Select item 50054685.

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa

Andrea Angius, Paolo Uva, Insa Buers, Manuela Oppo, Alessandro Puddu, Stefano Onano, Ivana Persico, Angela Loi, Loredana Marcia, Wolfgang Höhne, Gianmauro Cuccuru, Giorgio Fotia, Manila Deiana, Mara Marongiu, Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M.E. Smit, Ilyas Okur, Koray Boduroglu, Gülen Eda Utine, Esra Kılıç, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

Am J Hum Genet. 2016 Jul 7; 99(1): 236–245. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.026

Correction in:: Am J Hum Genet. 2018 Apr 5; 102(4): 713.

PMCID:: PMC5005468

Article PDF–2.0M

Select item 43754446.

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively, Anita E. Beck, Colby T. Marvin, Jose R. Armenteros, Kati J. Buckingham, Naomi T. Nkinsi, Evan A. Boyle, Margaret N. Berry, Maureen Bocian, Nicola Foulds, Maria Luisa Giovannucci Uzielli, Chad Haldeman-Englert, Raoul C.M. Hennekam, Paige Kaplan, Antonie D. Kline, Catherine L. Mercer, Malgorzata J.M. Nowaczyk, Jolien S. Klein Wassink-Ruiter, Elizabeth W. McPherson, Regina A. Moreno, Angela E. Scheuerle, Vandana Shashi, Cathy A. Stevens, John C. Carey, Arnaud Monteil, Philippe Lory, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad

Am J Hum Genet. 2015 Mar 5; 96(3): 462–473. doi: 10.1016/j.ajhg.2015.01.003

PMCID:: PMC4375444

Article PDF–882K

Select item 42650647.

Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

Mariarosa A B Melone, Michael J Pellegrino, Maria Nolano, Beth A Habecker, Stefan Johansson, Neil M Nathanson, Per M Knappskog, Angelika F Hahn, Helge Boman

Ann Clin Transl Neurol. 2014 Nov; 1(11): 926–932. Published online 2014 Oct 24. doi: 10.1002/acn3.126

PMCID:: PMC4265064

Article PDF–845K

Select item 39956968.

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Dawn Mikelonis, Cheryl L Jorcyk, Ken Tawara, Julia Thom Oxford

Orphanet J Rare Dis. 2014; 9: 34. Published online 2014 Mar 12. doi: 10.1186/1750-1172-9-34

PMCID:: PMC3995696

Article PDF–964K

Select item 18527269.

Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes

N. Dagoneau, S. Bellais, P. Blanchet, P. Sarda, L. I. Al-Gazali, M. Di Rocco, C. Huber, F. Djouadi, C. Le Goff, A. Munnich, V. Cormier-Daire

Am J Hum Genet. 2007 May; 80(5): 966–970. Published online 2007 Mar 13. doi: 10.1086/513608

PMCID:: PMC1852726

Article PDF–200K

Select item 150250710.

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient

François Rousseau, Jean-François Gauchat, James G. McLeod, Sylvie Chevalier, Catherine Guillet, Florence Guilhot, Isabelle Cognet, Josy Froger, Angelika F. Hahn, Per M. Knappskog, Hugues Gascan, Helge Boman

Proc Natl Acad Sci U S A. 2006 Jun 27; 103(26): 10068–10073. Published online 2006 Jun 16. doi: 10.1073/pnas.0509598103

PMCID:: PMC1502507

Article PDF–1.9M

Select item 122358511.

Principles of interleukin (IL)-6-type cytokine signalling and its regulation.

Peter C Heinrich, Iris Behrmann, Serge Haan, Heike M Hermanns, Gerhard Müller-Newen, Fred Schaper

Biochem J. 2003 Aug 15; 374(Pt 1): 1–20. doi: 10.1042/BJ20030407

PMCID:: PMC1223585

Summary PDF–466K

Select item 37923012.

Cold-Induced Sweating Syndrome Is Caused by Mutations in the CRLF1 Gene

Per M. Knappskog, Jacek Majewski, Avi Livneh, Per Torgeir E. Nilsen, Jorunn S. Bringsli, Jürg Ott, Helge Boman

Am J Hum Genet. 2003 Feb; 72(2): 375–383. Published online 2002 Dec 31. doi: 10.1086/346120

PMCID:: PMC379230

Article PDF–325K

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