All individuals with variants in gene SYNE1

871 entries on 9 pages. Showing entries 1 - 100.
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Disease     

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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00039409 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - 0 - - CVI, ID see paper; ... 2 1 Danielle Bosch
00065136 - PubMed: Neubauer 2017 Journal: Neubauer 2017 - F ? Switzerland European 00y03m 0 - - SIDS SIDS 1 1 Cordula Haas
00065148 - PubMed: Neubauer 2017 Journal: Neubauer 2017 - F ? Switzerland European 00y02m 0 - - SIDS SIDS 1 1 Cordula Haas
00079571 - PubMed: Puckelwartz 2009 mouse model (in vivo) - - - - - 0 - - ? 50% mice dye at or near birth from respiratory failure; surviving mice EDMD-like phenotype (progressive hind limb weakness, kyphoscoliosis, muscle pathology, cardiac conduction defects) 1 1 Johan den Dunnen
00079578 - - - - - Canada - - 0 - - SCAR-8 - 2 1 Tom Winder
00079579 - PubMed: Gros-Louis 2007 - - - Canada - - 0 - - SCAR-8 - 4 1 Johan den Dunnen
00079580 - PubMed: Zhang 2007 Fam1 M - (United Kingdom (Great Britain)) - - 0 - - EDMD-4 - 1 1 Johan den Dunnen
00079581 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 1 Johan den Dunnen
00079582 - PubMed: Zhang 2007 Fam3 M - (United Kingdom (Great Britain)) - - 0 - - EDMD-4 almost asymptomatic; CPK raised 1 1 Johan den Dunnen
00079583 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 1 Johan den Dunnen
00079584 - PubMed: Zhang 2007 Fam2 M - (United Kingdom (Great Britain)) - - 0 - - EDMD-5 muscular dystrophy, severe dilated cardiomyopathy requiring heart transplantation 26y 1 1 Johan den Dunnen
00079585 - PubMed: Zhang 2007 father of G-11774 M - (United Kingdom (Great Britain)) - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079586 - PubMed: Gros-Louis 2007 4-generation family, 4 affecteds - - Canada French Canadian - 0 - - SCAR-8 - 2 4 Johan den Dunnen
00079587 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 1 Johan den Dunnen
00079588 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 20 Johan den Dunnen
00079589 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 11 Johan den Dunnen
00079590 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 6 Johan den Dunnen
00079591 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 1 Johan den Dunnen
00079592 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 4 Johan den Dunnen
00079593 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 3 Johan den Dunnen
00079594 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 2 1 Johan den Dunnen
00079595 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 1 1 Johan den Dunnen
00079596 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 1 1 Johan den Dunnen
00079597 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 1 3 Johan den Dunnen
00079598 - PubMed: Dupre 2007 - - - Canada French Canadian - 0 - - SCAR-8 - 1 1 Johan den Dunnen
00079599 - PubMed: Zhang 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079600 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079601 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079602 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079603 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079604 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079605 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079606 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079607 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079608 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079609 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079610 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079611 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079612 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079613 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079614 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079615 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079616 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079617 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079618 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079619 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079620 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079621 - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00079622 - PubMed: Attali 2009 4-generation family, 4 affecteds - - Palestine - - 0 - - arthrogryposis myogenic arthrogryposis multiplex congenita (AMC) 2 4 Johan den Dunnen
00079628 - - family, 2 affecteds M - Iran - - 0 - - arthrogryposis autosomal recessive form of myogenic arthrogryposis multiplex congenita (AMC) 2 2 Zohreh Fattahi
00079635 - PubMed: Baumann 2017, Journal: Baumann 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Austria Turkey - 0 - - DA see paper; ... 1 1 Andreas Janecke
00134050 - - - F - (Germany) - - 0 - - - HP:0001258 (Spastic paraplegia) 1 1 IMGAG
00150165 26539891-FamBAB5723 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? intellectual diability, microcephaly, hypoplasia of the brain stem and cerebellum, delayed myelination 2 1 Johan den Dunnen
00164647 24123876-FamW10-1137 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, affected sister/brother, unaffected carrier parents F;M no Netherlands - - 0 - - ID spastic paraplegia, axon neuropathy, leukoencephalopathy, hypoplastic corpus callosum (female only) 3 2 Johan den Dunnen
00165289 - - - - - - - - 0 - - SCA-8 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00207916 VI:17 - - M no Spain Canarian Island 70y 0 - - ataxia - 1 31 Carmen Palma
00219467 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219480 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00219520 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219530 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219538 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219542 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00219550 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219552 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219554 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219556 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219559 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219561 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219562 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219563 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219567 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219569 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219582 30564623-Pat PubMed: Nallamilli 2018 - F - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219586 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219588 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219591 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219593 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219597 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219605 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219610 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219622 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219624 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219633 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219635 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219637 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219646 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219649 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219652 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219656 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219659 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00219664 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219665 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219666 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219667 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219668 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219671 30564623-Pat PubMed: Nallamilli 2018 - M - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219673 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 2 1 Madhuri Hegde
00219677 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
00219683 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - LGMD - 1 1 Madhuri Hegde
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