PMC Links for Books (Select 5146696) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 75744362.

The adult phenotype of Schaaf-Yang syndrome

Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler

Orphanet J Rare Dis. 2020; 15: 294. Published online 2020 Oct 19. doi: 10.1186/s13023-020-01557-8

PMCID:: PMC7574436

Article PDF–1.4M

Select item 74972893.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Article PDF–2.5M

Select item 68889444.

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh

Orphanet J Rare Dis. 2019; 14: 277. Published online 2019 Dec 2. doi: 10.1186/s13023-019-1249-4

PMCID:: PMC6888944

Article PDF–991K

Select item 68642265.

J Patak, J Gilfert, M Byler, V Neerukonda, I Thiffault, LA Cross, SM Amudhavalli, M Pacio-Miguez, M Palomares-Bralo, S Garcia-Minaur, F Santos-Simarro, Z Powis, W Alcaraz, S Tang, J Jurgens, B Barry, E England, EC Engle, J Hess, RR Lebel

Clin Genet. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Clin Genet. 2019 Dec; 96(6): 493–505. Published online 2019 Aug 22. doi: 10.1111/cge.13620

PMCID:: PMC6864226

Article PDF–1.7M

Select item 68286896.

mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome

Emeline Crutcher, Rituraj Pal, Fatemeh Naini, Ping Zhang, Magdalena Laugsch, Jean Kim, Aleksandar Bajic, Christian P. Schaaf

Sci Rep. 2019; 9: 15935. Published online 2019 Nov 4. doi: 10.1038/s41598-019-52287-2

PMCID:: PMC6828689

Article PDF–4.1M

Select item 65858577.

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 55947448.

Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2

Klementina Fon Tacer, Patrick Ryan Potts

Biochem J. Author manuscript; available in PMC 2018 Jun 16.

Published in final edited form as: Biochem J. 2017 Jun 16; 474(13): 2177–2190. Published online 2017 Jun 16. doi: 10.1042/BCJ20160616

PMCID:: PMC5594744

Article PDF–1.0M

Select item 53450639.

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

Roser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, Sílvia Mort-Farre, Neus Roca-Ayats, Julia Ponomarenko, Luca Cozzuto, Carlos Company, Mattia Bosio, Stephan Ossowski, Magda Montfort, Jochen Hecht, Eduardo F. Tizzano, Bru Cormand, Lluïsa Vilageliu, John M. Opitz, Giovanni Neri, Daniel Grinberg, Susana Balcells

Sci Rep. 2017; 7: 44138. Published online 2017 Mar 10. doi: 10.1038/srep44138

PMCID:: PMC5345063

Article PDF–701K

Select item 511628810.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena A. Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A.L. Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M.A. van Ravenswaaij-Arts, Inge B. Mathijssen, Sebastien Levesque, Naomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K. Lewis, Simone Race, Laura L. Stewart, Beverly Hay, Andrea M. Lewis, Rita L. Guerreiro, Jose T. Bras, Marcia P. Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A. Bok, Gijs W.E. Santen, Christian P. Schaaf

Genet Med. Author manuscript; available in PMC 2017 Jan 11.

Published in final edited form as: Genet Med. 2017 Jan; 19(1): 45–52. Published online 2016 May 19. doi: 10.1038/gim.2016.53

Correction in:: Genet Med. 2016 Oct; 18(10): 1066.

PMCID:: PMC5116288

Article PDF–531K

Select item 507315811.

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

Chong Kun Cheon

Ann Pediatr Endocrinol Metab. 2016 Sep; 21(3): 126–135. Published online 2016 Sep 30. doi: 10.6065/apem.2016.21.3.126

PMCID:: PMC5073158

Article PDF–720K

Select item 459689012.

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

Dan Mejlachowicz, Flora Nolent, Jérome Maluenda, Hanitra Ranjatoelina-Randrianaivo, Fabienne Giuliano, Ivo Gut, Damien Sternberg, Annie Laquerrière, Judith Melki

Am J Hum Genet. 2015 Oct 1; 97(4): 616–620. Published online 2015 Sep 10. doi: 10.1016/j.ajhg.2015.08.010

PMCID:: PMC4596890

Article PDF–453K

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 428686814.

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Sarah E. Soden, Carol J. Saunders, Laurel K. Willig, Emily G. Farrow, Laurie D. Smith, Josh E. Petrikin, Jean-Baptiste LePichon, Neil A. Miller, Isabelle Thiffault, Darrell L. Dinwiddie, Greyson Twist, Aaron Noll, Bryce A. Heese, Lee Zellmer, Andrea M. Atherton, Ahmed T. Abdelmoity, Nicole Safina, Sarah S. Nyp, Britton Zuccarelli, Ingrid A. Larson, Ann Modrcin, Suzanne Herd, Mitchell Creed, Zhaohui Ye, Xuan Yuan, Robert A. Brodsky, Stephen F. Kingsmore

Sci Transl Med. Author manuscript; available in PMC 2015 Jun 3.

Published in final edited form as: Sci Transl Med. 2014 Dec 3; 6(265): 265ra168. doi: 10.1126/scitranslmed.3010076

PMCID:: PMC4286868

Article PDF–1.5M

Select item 398788715.

Clinical phenotypes of MAGEL2 mutations and deletions

Karin Buiting, Nataliya Di Donato, Jasmin Beygo, Susanne Bens, Maja von der Hagen, Karl Hackmann, Bernhard Horsthemke

Orphanet J Rare Dis. 2014; 9: 40. Published online 2014 Mar 25. doi: 10.1186/1750-1172-9-40

PMCID:: PMC3987887

Article PDF–875K

Select item 381916216.

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

Christian P. Schaaf, Manuel L. Gonzalez-Garay, Fan Xia, Lorraine Potocki, Karen W. Gripp, Baili Zhang, Brock A. Peters, Mark A. McElwain, Radoje Drmanac, Arthur L. Beaudet, C. Thomas Caskey, Yaping Yang

Nat Genet. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: Nat Genet. 2013 Nov; 45(11): 1405–1408. Published online 2013 Sep 29. doi: 10.1038/ng.2776

PMCID:: PMC3819162

Article PDF–298K

Select item 378988617.

Growth Hormone Research Society Workshop Summary: Consensus Guidelines for Recombinant Human Growth Hormone Therapy in Prader-Willi Syndrome

Cheri L. Deal, Michèle Tony, Charlotte Höybye, David B. Allen, Maïthé Tauber, Jens Sandahl Christiansen, the 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants, Geoffrey R. Ambler, Renaldo Battista, Véronique Beauloye, Glenn Berall, Beverly M. K. Biller, Merlin G. Butler, Suzanne B. Cassidy, Kazuo Chihara, Pinchas Cohen, Maria Craig, Stense Farholt, Mireille Goetghebeur, EVIDEM Collaboration, Anthony P. Goldstone, Tiziana Greggi, Graziano Grugni, Anita C. Hokken-Koelega, Gudmundur Johannsson, Keegan Johnson, Alex Kemper, John J. Kopchick, Saul Malozowski, Jennifer Miller, Harriette R. Mogul, Françoise Muscatelli, Ricard Nergårdh, Robert D. Nicholls, Sally Radovick, M. Sara Rosenthal, Ilkka Sipilä, Jean-Eric Tarride, Annick Vogels, Michael J. Waters

J Clin Endocrinol Metab. 2013 Jun; 98(6): E1072–E1087. Published online 2013 Mar 29. doi: 10.1210/jc.2012-3888

PMCID:: PMC3789886

Article

Select item 298627318.

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndrome

Deniz Kanber, Jacques Giltay, Dagmar Wieczorek, Corinna Zogel, Ron Hochstenbach, Almuth Caliebe, Alma Kuechler, Bernhard Horsthemke, Karin Buiting

Eur J Hum Genet. 2009 May; 17(5): 582–590. Published online 2008 Dec 10. doi: 10.1038/ejhg.2008.232

PMCID:: PMC2986273

Article PDF–274K

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