PMC Links for Books (Select 1482066) - PMC

Christos M. Polymeropoulos, Justin Brooks, Emily L. Czeisler, Michaela A. Fisher, Mary M. Gibson, Kailey Kite, Sandra P. Smieszek, Changfu Xiao, Sarah H. Elsea, Gunther Birznieks, Mihael H. Polymeropoulos

Genet Med. 2021; 23(12): 2426–2432. Published online 2021 Jul 27. doi: 10.1038/s41436-021-01282-y

PMCID:: PMC8629754

Article PDF–526K

Select item 77140484.

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

Brooke Burns, Kristie Schmidt, Stephen R. Williams, Sun Kim, Santhosh Girirajan, Sarah H. Elsea

Hum Mol Genet. 2010 Oct 15; 19(20): 4026–4042. Published online 2010 Jul 27. doi: 10.1093/hmg/ddq317

PMCID:: PMC7714048

Article PDF–625K

Select item 66991565.

Twenty-four-Hour Motor Activity and Body Temperature Patterns Suggest Altered Central Circadian Timekeeping in Smith-Magenis Syndrome, a Neurodevelopmental Disorder

Ann C.M. Smith, Rebecca S. Morse, Wendy Introne, Wallace C. Duncan, Jr

Am J Med Genet A. Author manuscript; available in PMC 2020 Feb 1.

Published in final edited form as: Am J Med Genet A. 2019 Feb; 179(2): 224–236. doi: 10.1002/ajmg.a.61003

PMCID:: PMC6699156

Article PDF–1.2M

Select item 64928806.

Sleep Complaints and the 24‐h Melatonin Level in Individuals with Smith–Magenis Syndrome: Assessment for Effective Intervention

Karen Spruyt, Wiebe Braam, Marcel Smits, Leopold MG Curfs

CNS Neurosci Ther. 2016 Nov; 22(11): 928–935. Published online 2016 Oct 14. doi: 10.1111/cns.12653

PMCID:: PMC6492880

Article PDF–738K

Select item 56809637.

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

Mariateresa Falco, Sonia Amabile, Fabio Acquaviva

Appl Clin Genet. 2017; 10: 85–94. Published online 2017 Nov 3. doi: 10.2147/TACG.S128455

PMCID:: PMC5680963

Article PDF–452K

Select item 55917488.

Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies

Tiffany Perkins, Jacob M. Rosenberg, Carole Le Coz, Joseph T Alaimo, Melissa Trofa, Sureni V Mullegama, Richard J Antaya, Soma Jyonouchi, Sarah H Elsea, Paul J Utz, Eric Meffre, Neil Romberg

J Allergy Clin Immunol Pract. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: J Allergy Clin Immunol Pract. 2017 Sep-Oct; 5(5): 1344–1350.e3. Published online 2017 Mar 9. doi: 10.1016/j.jaip.2017.01.028

PMCID:: PMC5591748

Article PDF–451K

Select item 55480789.

Auditory Phenotype of Smith–Magenis Syndrome

Megan A. Brendal, Kelly A. King, Christopher K. Zalewski, Brenda M. Finucane, Wendy Introne, Carmen C. Brewer, Ann C. M. Smith

J Speech Lang Hear Res. 2017 Apr; 60(4): 1076–1087. Published online 2017 Apr 14. doi: 10.1044/2016_JSLHR-H-16-0024

PMCID:: PMC5548078

Article PDF–961K

Select item 546476910.

Rai1 frees mice from the repression of active wake behaviors by light

Shanaz Diessler, Corinne Kostic, Yvan Arsenijevic, Aki Kawasaki, Paul Franken

eLife. 2017; 6: e23292. Published online 2017 May 26. doi: 10.7554/eLife.23292

PMCID:: PMC5464769

Article PDF–8.7M

Select item 511952411.

Molecular Genetics and Clinical Features of Birt-Hogg-Dubé-Syndrome

Laura S. Schmidt, W. Marston Linehan

Nat Rev Urol. Author manuscript; available in PMC 2016 Nov 22.

Published in final edited form as: Nat Rev Urol. 2015 Oct; 12(10): 558–569. Published online 2015 Sep 1. doi: 10.1038/nrurol.2015.206

PMCID:: PMC5119524

Article PDF–1.0M

Select item 509847612.

Molecular and Neural Functions of Rai1, The Causal Gene for Smith-Magenis Syndrome

Wei-Hsiang Huang, Casey J. Guenthner, Jin Xu, Tiffany Nguyen, Lindsay A. Schwarz, Alex W. Wilkinson, Or Gozani, Howard Y. Chang, Mehrdad Shamloo, Liqun Luo

Neuron. Author manuscript; available in PMC 2017 Oct 19.

Published in final edited form as: Neuron. 2016 Oct 19; 92(2): 392–406. Published online 2016 Sep 29. doi: 10.1016/j.neuron.2016.09.019

PMCID:: PMC5098476

Article PDF–3.1M

Select item 454475313.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Article PDF–960K

Select item 413427214.

Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1

Joseph T. Alaimo, Natalie H. Hahn, Sureni V. Mullegama, Sarah H. Elsea

PLoS One. 2014; 9(8): e105077. Published online 2014 Aug 15. doi: 10.1371/journal.pone.0105077

Correction in:: PLoS One. 2014; 9(11): e114092.

PMCID:: PMC4134272

Article PDF–673K

Select item 412940415.

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

Ian M. Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemyslaw Szafranski, Meriel E. McEntagart, Sandesh C.S. Nagamani, Ayelet Erez, Magdalena Bartnik, Barbara Wiśniowiecka-Kowalnik, Katie S. Plunkett, Amber N. Pursley, Sung-Hae L. Kang, Weimin Bi, Seema R. Lalani, Carlos A. Bacino, Mala Vast, Karen Marks, Michael Patton, Peter Olofsson, Ankita Patel, Joris A. Veltman, Sau Wai Cheung, Chad A. Shaw, Lisenka E.L.M. Vissers, Joris R. Vermeesch, James R. Lupski, Paweł Stankiewicz

Am J Hum Genet. 2014 Aug 7; 95(2): 173–182. doi: 10.1016/j.ajhg.2014.07.003

PMCID:: PMC4129404

Article PDF–1.4M

Select item 397722416.

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

C. Dubourg, F. Bonnet-Brilhault, A. Toutain, C. Mignot, A. Jacquette, A. Dieux, M. Gérard, M.-P. Beaumont-Epinette, S. Julia, B. Isidor, M. Rossi, S. Odent, C. Bendavid, C. Barthélémy, A. Verloes, V. David

Mol Syndromol. 2014 Feb; 5(2): 57–64. Published online 2014 Jan 7. doi: 10.1159/000357359

PMCID:: PMC3977224

Article PDF–175K

Select item 396119117.

Modeling 3D Facial Shape from DNA

Peter Claes, Denise K. Liberton, Katleen Daniels, Kerri Matthes Rosana, Ellen E. Quillen, Laurel N. Pearson, Brian McEvoy, Marc Bauchet, Arslan A. Zaidi, Wei Yao, Hua Tang, Gregory S. Barsh, Devin M. Absher, David A. Puts, Jorge Rocha, Sandra Beleza, Rinaldo W. Pereira, Gareth Baynam, Paul Suetens, Dirk Vandermeulen, Jennifer K. Wagner, James S. Boster, Mark D. Shriver

PLoS Genet. 2014 Mar; 10(3): e1004224. Published online 2014 Mar 20. doi: 10.1371/journal.pgen.1004224

PMCID:: PMC3961191

Article PDF–2.0M

Select item 326093118.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Gustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno F Gamba, Daniel R Carvalho, Andréa de Rezende Duarte, Suely R Santos, Deise H de Souza, Barbara R DuPont, Katherina Walz, Danilo Moretti-Ferreira, Anand K Srivastava

Eur J Hum Genet. 2012 Feb; 20(2): 148–154. Published online 2011 Sep 7. doi: 10.1038/ejhg.2011.167

PMCID:: PMC3260931

Article PDF–511K

Select item 315255819.

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Thierry Vilboux, Carla Ciccone, Jan K. Blancato, Gerald F. Cox, Charu Deshpande, Wendy J. Introne, William A. Gahl, Ann C. M. Smith, Marjan Huizing

PLoS One. 2011; 6(8): e22861. Published online 2011 Aug 8. doi: 10.1371/journal.pone.0022861

PMCID:: PMC3152558

Article PDF–683K

Select item 314060620.

Abnormal Circadian Rhythm of Melatonin in Smith-Magenis Syndrome Patients with RAI1 Point Mutations

Philip M. Boone, Russel J. Reiter, Daniel G. Glaze, Dun-Xian Tan, James R. Lupski, Lorraine Potocki

Am J Med Genet A. Author manuscript; available in PMC 2012 Aug 1.

Published in final edited form as: Am J Med Genet A. 2011 Aug; 155(8): 2024–2027. Published online 2011 Jul 7. doi: 10.1002/ajmg.a.34098

PMCID:: PMC3140606

Article PDF–122K

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