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by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaëlle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Gee, Heon Yung and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sana D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 10, pp. 1529 - 1529
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly... 
YEAST | UNFOLDED PROTEIN RESPONSE | TRANSFER-RNA MODIFICATION | DNA | KINASE | SECKEL-SYNDROME | GENOME MAINTENANCE | WDR73 | GALLOWAY-MOWAT SYNDROME | MASS-SPECTROMETRY | GENETICS & HEREDITY | Metalloendopeptidases - genetics | Protein-Serine-Threonine Kinases - deficiency | Microcephaly - genetics | Humans | Metalloendopeptidases - deficiency | Apoptosis - genetics | Multiprotein Complexes - genetics | Nephrotic Syndrome - genetics | DNA Repair - genetics | Telomere Homeostasis - genetics | Endoplasmic Reticulum Stress - genetics | Intracellular Signaling Peptides and Proteins - deficiency | Hernia, Hiatal - genetics | Intracellular Signaling Peptides and Proteins - genetics | Podocytes - metabolism | RNA, Transfer - metabolism | Protein-Serine-Threonine Kinases - genetics | Models, Molecular | Nephrotic Syndrome - pathology | Zebrafish | Cytoskeleton - ultrastructure | Nephrosis - genetics | Gene Knockout Techniques | Carrier Proteins - genetics | Podocytes - ultrastructure | Zebrafish Proteins - deficiency | Animals | RNA Processing, Post-Transcriptional - genetics | CRISPR-Cas Systems | Protein Conformation | Mice | Mutation | Zebrafish Proteins - genetics | Cell Movement | Genetic disorders | Gene mutations | Development and progression | Nephrotic syndrome | Genetic aspects | Microcephaly | Health aspects | Cell proliferation | Brain | CRISPR | Genes | DNA damage | Genomes | Lethality | Kinases | Proteins | Genotype & phenotype | Microencephaly | Actin | Biopsy | Cytoskeleton | Scientific imaging | Endoplasmic reticulum | Mass spectrometry | Deoxyribonucleic acid--DNA | Apoptosis | Life Sciences
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2017, Volume 12, Issue 1, pp. 83 - 8
Journal Article
by Braun, Daniela A and Rao, Jia and Mollet, Geraldine and Schapiro, David and Daugeron, Marie-Claire and Tan, Weizhen and Gribouval, Olivier and Boyer, Olivia and Revy, Patrick and Jobst-Schwan, Tilman and Schmidt, Johanna Magdalena and Lawson, Jennifer A and Schanze, Denny and Ashraf, Shazia and Ullmann, Jeremy F. P and Hoogstraten, Charlotte A and Boddaert, Nathalie and Collinet, Bruno and Martin, Gaelle and Liger, Dominique and Lovric, Svjetlana and Furlano, Monica and Guerrera, I. Chiara and Sanchez-Ferras, Oraly and Hu, Jennifer F and Boschat, Anne-Claire and Sanquer, Sylvia and Menten, Björn and Vergult, Sarah and De Rocker, Nina and Airik, Merlin and Hermle, Tobias and Shril, Shirlee and Widmeier, Eugen and Yung Gee, Heon and Choi, Won-Il and Sadowski, Carolin E and Pabst, Werner L and Warejko, Jillian K and Daga, Ankana and Basta, Tamara and Matejas, Verena and Scharmann, Karin and Kienast, Sandra D and Behnam, Babak and Beeson, Brendan and Begtrup, Amber and Bruce, Malcolm and Ch'Ng, Gaik-Siew and Lin, Shuan-Pei and Chang, Jui-Hsing and Chen, Chao-Huei and Cho, Megan T and Gaffney, Patrick M and Gipson, Patrick E and Hsu, Chyong-Hsin and Kari, Jameela A and Ke, Yu-Yuan and Kiraly-Borri, Cathy and Lai, Wai-Ming and Lemyre, Emmanuelle and Littlejohn, Rebecca Okashah and Masri, Amira and Moghtaderi, Mastaneh and Nakamura, Kazuyuki and Ozaltin, Fatih and Praet, Marleen and Prasad, Chitra and Prytula, Agnieszka and Roeder, Elizabeth R and Rump, Patrick and Schnur, Rhonda E and Shiihara, Takashi and Sinha, Manish D and Soliman, Neveen A and Soulami, Kenza and Sweetser, David A and Tsai, Wen-Hui and Tsai, Jeng-Daw and Topaloglu, Rezan and Vester, Udo and Viskochil, David H and Vatanavicharn, Nithiwat and Waxler, Jessica L and Wierenga, Klaas J and Wolf, Matthias T. F and Wong, Sik-Nin and Leidel, Sebastian A and Truglio, Gessica and Dedon, Peter C and Poduri, Annapurna and Mane, Shrikant and Lifton, Richard P and Bouchard, Maxime and Kannu, Peter and Chitayat, David and Magen, Daniella and Callewaert, Bert and Van Tilbeurgh, Herman and Zenker, Martin and ...
Nature Genetics, ISSN 1061-4036, 10/2017, Volume 49, Issue 10, pp. 1529 - 1538
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 6 - 18
Journal Article
by Hernández-Ramírez, Laura C and Gabrovska, Plamena and Dénes, Judit and Stals, Karen and Trivellin, Giampaolo and Tilley, Daniel and Ferraù, Francesco and Evanson, Jane and Ellard, Sian and Grossman, Ashley B and Roncaroli, Federico and Gadelha, Mônica R and Korbonits, Márta and Agha, Amar and Akker, Scott A and Aflorei, Elena D and Alföldi, Sándor and Arlt, Wiebke and Atkinson, Brew and Aulinas-Masó, Anna and Aylwin, Simon J and Backeljauw, Philippe F and Badiu, Corin and Baldeweg, Stephanie and Bano, Gul and Barkan, Ariel and Barwell, Julian and Bernal-González, Carmen and Besser, G. Michael and Bevan, John S and Blair, Jo and Bouloux, Pierre and Bradley, Lisa and Buchfelder, Michael and Cakir, Mehtap and Canham, Natalie and Carroll, Paul and Chahal, Harvinder S and Cheetham, Tim and Chentli, Farida and Clayton, Richard N and Cohen, Mark and Cole, Trevor and Courtney, Hamish and Crowne, Elizabeth and Cuthbertson, Daniel and Dal, Jacob and Dalantaeva, Nadezhda and Daousi, Christina and Darzy, Ken and Dattani, Mehul and Davies, Justin H and Davis, Julian and De Castro, Margaret and De Marinis, Laura and Drake, William and Dutta, Pinaki and Dzeranova, Larisa and Edén-Engström, Britt and Eeles, Rosalind and Elfving, Maria and Elston, Marianne and Emmerson, Louise and Fersht, Naomi and Fica, Simona and Fischli, Stefan and Flanagan, Daniel and Fleseriu, Maria and Freda, Pamela U and Friedman, Theodore and Frohman, Lawrence A and Gallego, Patricia and Gevers, Evelien and Gláz, Edit and Goldman, James A and Goldstone, Anthony P and Goth, Miklos and Greenhalgh, Lynn and Grieve, Joan and Guitelman, Mirtha and Gürlek, Alper and Gurnell, Mark and Horvath, Katalin and Howlett, Trevor A and Höybye, Charlotte and Hunter, Steven and Iacovazzo, Donato and Igaz, Peter and Inder, Warrick J and Iwata, Takeo and Izatt, Louise and Jagadeesh, Sujatha and Kaltsas, Gregory and Kaplan, Felicity and Karavitaki, Niki and Kastelan, Darko and Katz, Michelle and Kearney, Tara and Khoo, Bernard and Kiraly-Borri, Cathy and ... and Int FIPA Consortium and International FIPA Consortium
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 09/2015, Volume 100, Issue 9, pp. E1242 - E1254
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