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Journal of the American Society of Hypertension, ISSN 1933-1711, 03/2017, Volume 11, Issue 3, pp. 134 - 135
Journal Article
Endocrinology, diabetes & metabolism case reports, ISSN 2052-0573, 03/2019, Volume 2019, Issue 1, pp. 1 - 5
Carney complex (CNC) is a rare multiple neoplasia syndrome characterized by spotty pigmentation of the skin and mucosa in association with various... 
Journal Article
by Li, Jun and Woods, Susan L and Healey, Sue and Beesley, Jonathan and Chen, Xiaoqing and Lee, Jason S and Sivakumaran, Haran and Wayte, Nicci and Nones, Katia and Waterfall, Joshua J and Pearson, John and Patch, Anne-Marie and Senz, Janine and Ferreira, Manuel A and Kaurah, Pardeep and Mackenzie, Robertson and Heravi-Moussavi, Alireza and Hansford, Samantha and Lannagan, Tamsin R.M and Spurdle, Amanda B and Simpson, Peter T and da Silva, Leonard and Lakhani, Sunil R and Clouston, Andrew D and Bettington, Mark and Grimpen, Florian and Busuttil, Rita A and Di Costanzo, Natasha and Boussioutas, Alex and Jeanjean, Marie and Chong, George and Fabre, Aurélie and Olschwang, Sylviane and Faulkner, Geoffrey J and Bellos, Evangelos and Coin, Lachlan and Rioux, Kevin and Bathe, Oliver F and Wen, Xiaogang and Martin, Hilary C and Neklason, Deborah W and Davis, Sean R and Walker, Robert L and Calzone, Kathleen A and Avital, Itzhak and Heller, Theo and Koh, Christopher and Pineda, Marbin and Rudloff, Udo and Quezado, Martha and Pichurin, Pavel N and Hulick, Peter J and Weissman, Scott M and Newlin, Anna and Rubinstein, Wendy S and Sampson, Jone E and Hamman, Kelly and Goldgar, David and Poplawski, Nicola and Phillips, Kerry and Schofield, Lyn and Armstrong, Jacqueline and Kiraly-Borri, Cathy and Suthers, Graeme K and Huntsman, David G and Foulkes, William D and Carneiro, Fatima and Lindor, Noralane M and Edwards, Stacey L and French, Juliet D and Waddell, Nicola and Meltzer, Paul S and Worthley, Daniel L and Schrader, Kasmintan A and Chenevix-Trench, Georgia
The American Journal of Human Genetics, ISSN 0002-9297, 05/2016, Volume 98, Issue 5, pp. 830 - 842
Journal Article
Mayo Clinic Proceedings, ISSN 0025-6196, 03/2016, Volume 91, Issue 3, pp. 297 - 307
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2019, Volume 179, Issue 4, pp. 570 - 578
DDX3X (Xp11.4) encodes a DEAD‐box RNA helicase that escapes X chromosome inactivation. Pathogenic variants in DDX3X have been shown to cause X‐linked... 
developmental delay | DDX3X | syndromic intellectual disability | intellectual disability | GENETICS & HEREDITY | PHENOTYPE | MUTATIONS | COMMON-CAUSE | Pathogenicity | DNA helicase | Phenotypes | Microencephaly | Intellectual disabilities | Spasticity | Females | Males | Movement disorders | RNA helicase | Haploinsufficiency
Journal Article
Journal Article
Journal Article
Endocrinology, ISSN 0013-7227, 12/2007, Volume 148, Issue 12, pp. 5724 - 5733
Hyperthyroidism in Graves' disease is caused by thyroid-stimulating autoantibodies to the TSH receptor (TSHR), whereas hypothyroidism in Hashimoto's... 
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
Endocrinology, ISSN 0013-7227, 04/2008, Volume 149, Issue 4, pp. 2001 - 2009
Susceptibility genes for TSH receptor (TSHR) antibodies and hyperthyroidism can be probed in recombinant inbred (RI) mice immunized with adenovirus expressing... 
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 12/2017, Volume 13, Issue C, pp. 46 - 51
Lysosomal diseases (LD) comprise a group of approximately 60 hereditary conditions caused by progressive accumulation of metabolites due to defects in... 
Rare diseases | Lysosomal disorders | Inborn errors of metabolism | Lysosomal storage disorders | Whole exome sequencing | Undiagnosed diseases | STORAGE DISORDERS | INDIVIDUALIZED MEDICINE | AUTOPHAGY | VI | GENETICS | PATHWAY | GENETICS & HEREDITY | MUTATIONS
Journal Article
by Johnson, Brett V and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Grønborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A and VanHasselt, Peter M and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Schoch, Kelly and Sullivan, Jennifer A and Pinto E Vairo, Filippo and Pichurin, Pavel N and Ewing, Sarah A and Barnett, Sarah S and Klee, Eric W and Perry, M Scott and Koenig, Mary Kay and Keegan, Catherine E and Schuette, Jane L and Asher, Stephanie and Perilla-Young, Yezmin and Smith, Laurie D and Rosenfeld, Jill A and Bhoj, Elizabeth and Kaplan, Paige and Li, Dong and Oegema, Renske and van Binsbergen, Ellen and van der Zwaag, Bert and Smeland, Marie Falkenberg and Cutcutache, Ioana and Page, Matthew and Armstrong, Martin and Lin, Angela E and Steeves, Marcie A and Hollander, Nicolette den and Hoffer, Mariëtte J V and Reijnders, Margot R F and Demirdas, Serwet and Koboldt, Daniel C and Bartholomew, Dennis and Mosher, Theresa Mihalic and Hickey, Scott E and Shieh, Christine and Sanchez-Lara, Pedro A and Graham, Jr, John M and Tezcan, Kamer and Schaefer, G B and Danylchuk, Noelle R and Asamoah, Alexander and Jackson, Kelly E and Yachelevich, Naomi and Au, Margaret and Pérez-Jurado, Luis A and Kleefstra, Tjitske and Penzes, Peter and ... and Undiagnosed Diseases Network
Biological psychiatry, ISSN 0006-3223, 06/2019
The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X... 
Journal Article