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corrélation génotype-phénotypeSynonyme(s)genotype-phenotype correlationVoir aussi |
Documents disponibles dans cette catégorie (1196)
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Baumbach-Reardon L ; Hunter JM ; Ahearn ME ; Pfautsch M | 29/07/2021Initial Posting: October 30, 2008; Last Update: July 29, 2021.Article
Handunnetthi L ; Knezevic B ; Kasela S ; Burnham KL ; Milani L ; Irani SR ; Fang H ; Knight JC | United States | 19/07/2021Article
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Weber F | 01/07/2021Initial Posting: July 18, 2003; Last Update: July 1, 2021. Clinical characteristics. Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes[...]Article
Sivera R ; Lupo V ; Frasquet M ; Argente-Escrig H ; Alonso Perez J ; Diaz-Manera J ; Querol L ; García-Romero MDM ; Pascual SI ; Garcia Sobrino T ; Paradas C ; Vazquez-Costa JF ; Muelas N ; Millet E ; Vilchez JJ ; Espinos C ; Sevilla T | England | 30/06/2021Article
Uchôa Cavalcanti EB ; Santos SCL ; Martins CES ; de Carvalho DR ; Rizzo IMPO ; Freitas MCDNB ; da Silva Freitas D ; de Souza FS ; Junior AM ; do Nascimento OJM | United States | 30/06/2021Article
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Van Lent J ; Verstraelen P ; Asselbergh B ; Adriaenssens E ; Mateiu L ; Verbist C ; De Winter V ; Eggermont K ; van den Bosch L ; De Vos WH ; Timmerman V | England | 15/06/2021Article
Georganopoulou DG ; Moisiadis VG ; Malik FA ; Mohajer A ; Dashevsky TM ; Wuu ST ; Hu CK | 10/06/2021Article
Subréville M ; Bonello-Palot N ; Yahiaoui D ; Beloribi-Djefaflia S ; Fernandes S ; Stojkovic T ; Cassereau J ; Pereon Y ; Echaniz-Laguna A ; Violleau MH ; Soulages A ; Louis SL ; Masingue M ; Magot A ; Delmont E ; Sacconi S ; Adams D ; Labeyrie C ; Genestet S ; Noury JB ; Chanson JB ; Levy N ; Juntas-Morales R ; Tard C ; Sole G ; Attarian S | England | 01/06/2021Article
Kumutpongpanich T ; Ogasawara M ; Ozaki A ; Ishiura H ; Tsuji S ; Minami N ; Hayashi S ; Noguchi S ; Iida A ; Nishino I ; Mori Yoshimura M ; Oya Y ; Ono K ; Shimizu T ; Kawata A ; Shimohama S ; Toyooka K ; Endo K ; Toru S ; Sasaki O ; Isahaya K ; Takahashi MP ; Iwasa K ; Kira JI ; Yamamoto T ; Kawamoto M ; Hamano T ; Sugie K ; Eura N ; Shiota T ; Koide M ; Sekiya K ; Kishi H ; Hideyama T ; Kawai S ; Yanagimoto S ; Sato H ; Arahata H ; Murayama S ; Saito K ; Hara H ; Kanda T ; Yaguchi H ; Imai N ; Kawagashira Y ; Sanada M ; Obara K ; Kaido M ; Furuta M ; Kurashige T ; Hara W ; Kuzume D ; Yamamoto M ; Tsugawa J ; Kishida H ; Ishizuka N ; Morimoto K ; Tsuji Y ; Tsuneyama A ; Matsuno A ; Sasaki R ; Tamakoshi D ; Abe E ; Yamada S ; Uzawa A | 28/05/2021Article
Aoki M ; Takahashi T | 27/05/2021Initial Posting: February 5, 2004; Last Update: May 27, 2021. Clinical characteristics. Dysferlinopathy includes a spectrum of muscle disease characterized by two major phenotypes: Miyoshi muscular dystrophy (MMD) and limb-girdle muscular [...]Article
Bayram N ; Bayram AK ; Per H ; Gumus H ; Ozsaygili C ; Dogan MS ; Caglayan AO | United States | 12/05/2021Article
Cervera-Gaviria M ; Enterría-Rosales J ; Juárez-Vignon-Whaley JJ ; García-Sánchez J ; Treviño-Velasco R ; Cervera-Gaviria J | 14/04/2021Article
Initial Posting: June 11, 2015; Last Update: April 8, 2021 Clinical description. Riboflavin transporter deficiency (RTD), comprising RTD2 and RTD3 (caused by biallelic pathogenic variants in SLC52A2 and SLC52A3, respectively) is a rare neu[...]Article
Foley AR ; Mohassel P ; Donkervoort S ; Bolduc V ; Bonnemann CG | 11/03/2021Initial Posting: June 25, 2004; Last Update: March 11, 2021. Clinical characteristics. Collagen VI-related dystrophies (COL6-RDs) represent a continuum of overlapping clinical phenotypes with Bethlem muscular dystrophy at the milder end, U[...]Article
Azzedine H ; Salih MA | 11/03/2021Initial Posting: March 31, 2008; Last Update: March 11, 2021. Clinical characteristics. SH3TC2-related hereditary motor and sensory neuropathy (SH3TC2-HMSN) is a demyelinating neuropathy characterized by severe spine deformities (scoliosis[...]Article
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Initial Posting: August 3, 2005; Last Update: February 25, 2021. Clinical characteristics. Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, faci[...]Article
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Moore U ; Gordish H ; Diaz-Manera J ; James MK ; Mayhew AG ; Guglieri M ; Fernandez Torron R ; Rufibach LE ; Feng J ; Blamire AM ; Carlier PG ; Spuler S ; Day JW ; Jones KJ ; Bharucha-Goebel DX ; Salort-Campana E ; Pestronk A ; Walter MC ; Paradas C ; Stojkovic T ; Mori Yoshimura M ; Bravver E ; Pegoraro E ; Lowes LP ; Mendell JR ; Bushby K ; Straub V | England | 21/01/2021Article
Velez-Bartolomei F ; Lee C ; Enns G | 07/01/2021Initial Posting: June 3, 2003; Last Update: January 7, 2021. Clinical characteristics. MERRF (myoclonic epilepsy with ragged red fibers) is a multisystem disorder characterized by myoclonus (often the first symptom) followed by generalized[...]Article
Prior TW ; Leach ME ; Finanger E | 3/12/2020Initial Posting: February 24, 2000; Last Revision: December 3, 2020. Clinical characteristics. Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of t[...]Article
Pipis M ; Feely SME ; Polke JM ; Skorupinska M ; Perez L ; Shy RR ; Laura M ; Morrow JM ; Moroni I ; Pisciotta C ; Taroni F ; Vujovic D ; Lloyd TE ; Acsadi G ; Yum SW ; Lewis RA ; Finkel RS ; Herrmann DN ; Day JW ; Li J ; Saporta M ; Sadjadi R ; Walk D ; Burns J ; Muntoni F ; Ramchandren S ; Horvath R ; Johnson NE ; Zuchner S ; Pareyson D ; Scherer SS ; Rossor AM ; Shy ME ; Reilly MM | 01/12/2020Article
Trollet C ; Boulinguiez A ; Roth F ; Stojkovic T ; Butler Browne G ; Evangelista T ; Lacau St Guily J ; Richard P | 22/10/2020Initial Posting: March 8, 2001; Last Update: October 22, 2020. Clinical characteristics. Oculopharyngeal muscular dystrophy (OPMD) is characterized by ptosis and dysphagia due to selective involvement of the muscles of the eyelids and phar[...]Article
McCray BA ; Schindler A ; Hoover-Fong JE ; Sumner CJ | 17/09/2020Initial Posting: May 15, 2014; Last Update: September 17, 2020. Clinical characteristics. The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are n[...]Article
Initial Posting: April 2, 2009; Last Update: September 17, 2020. Clinical characteristics. Most individuals with classic GBE1 adult polyglucosan body disease (GBE1-APBD) present after age 40 years with unexplained progressive neurogenic bl[...]Article
Oliveira J ; Parente Freixo J ; Santos M ; Coelho T | 17/09/2020Initial Posting: June 7, 2012; Last Update: September 17, 2020. Clinical characteristics. The clinical manifestations of LAMA2 muscular dystrophy (LAMA2-MD) comprise a continuous spectrum ranging from severe congenital muscular dystrophy t[...]Article
Chrestian N | 27/08/2020Initial Posting: September 28, 1998; Last Update: August 27, 2020. Clinical characteristics. Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or mu[...]Article
Ferreira C ; Pierre G ; Thompson R ; Vernon H | 09/07/2020nitial Posting: October 9, 2014; Last Update: July 9, 2020. Clinical characteristics. Barth syndrome is characterized in affected males by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial ges[...]Article
Preethish Kumar V ; Shah A ; Kumar M ; Ingalhalikar M ; Polavarapu K ; Afsar M ; Rajeswaran J ; Vengalil S ; Nashi S ; Thomas PT ; Sadasivan A ; Warrier M ; Nalini A ; Saini J | 07/2020Article
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Prasun P | 18/06/2020Clinical characteristics. Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenita[...]Article
Samukawa M ; Nakamura N ; Hirano M ; Morikawa M ; Sakata H ; Nishino I ; Izumi R ; Suzuki N ; Kuroda H ; Shiga K ; Saigoh K ; Aoki M ; Kusunoki S | Switzerland | 06/2020Article
Cerino M ; Di Meglio C ; Albertini F ; Audic F ; Riccardi F ; Boulay C ; Philip N ; Bartoli M ; Levy N ; Krahn M ; Chabrol B | United States | 06/2020Article
Telese R ; Pagliarani S ; Lerario A ; Ciscato P ; Fagiolari G ; Cassandrini D ; Grimoldi N ; Conte G ; Cinnante C ; Santorelli FM ; Comi GP ; Sciacco M ; Peverelli L | United States | 06/2020Article
Hamanaka K ; Sikrova D ; Mitsuhashi S ; Masuda H ; Sekiguchi Y ; Sugiyama A ; Shibuya K ; Lemmers RJLF ; Goossens R ; Ogawa M ; Nagao K ; Obuse C ; Noguchi S ; Hayashi YK ; Kuwabara S ; Balog J ; Nishino I ; van der Maarel SM | United States | 06/2020Article
Stavusis J ; Micule I ; Wright NT ; Straub V ; Topf A ; Panades-de Oliveira L ; Dominguez Gonzalez C ; Inashkina I ; Kidere D ; Chrestian N ; Lace B | England | 06/2020Article
Zuchner S | 14/05/2020Initial Posting: February 18, 2005; Last Update: May 14, 2020. Clinical characteristics. MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal domi[...]Article
Elsea SH ; Solyom A ; Martin K ; Harmatz P ; Mitchell J ; Lampe C ; Grant C ; Selim L ; Mungan NO ; Guelbert N ; Magnusson B ; Sundberg E ; Puri R ; Kapoor S ; Arslan N ; DiRocco M ; Zaki M ; Ozen S ; Mahmoud IG ; Ehlert K ; Hahn A ; Gokcay G ; Torcoletti M ; Ferreira CR | United States | 05/2020Article
Izumi R ; Takahashi T ; Suzuki N ; Niihori T ; Ono H ; Nakamura N ; Katada S ; Kato M ; Warita H ; Tateyama M ; Aoki Y ; Aoki M | United States | 05/2020Article
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Guimaraes-Costa R ; Villar-Quiles RN ; Latour P ; Sole G ; Husson I ; Lacour A ; Leonard-Louis S ; Stojkovic T | England | 05/2020Article
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Tasca G ; Lattante S ; Marangi G ; Conte A ; Bernardo D ; Bisogni G ; Mandich P ; Zollino M ; Ragozzino E ; Udd B ; Sabatelli M | England | 04/2020Article
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Abdel Aleem A ; Elsaid MF ; Chalhoub N ; Chakroun A ; Mohamed KAS ; AlShami R ; Kuzu O ; Mohamed RB ; Ibrahim K ; AlMudheki N ; Osman O ; Ross ME ; ELalamy O | England | 04/2020Article
Acta neuropathologica Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Kushnir A ; Todd JJ ; Witherspoon JW ; Yuan Q ; Reiken S ; Lin H ; Munce RH ; Wajsberg B ; Melville Z ; Clarke OB ; Wedderburn-Pugh K ; Wronska A ; Razaqyar MS ; Chrismer IC ; Shelton MO ; Mankodi A ; Grunseich C ; Tarnopolsky MA ; Tanji K ; Hirano M ; Riazi S ; Kraeva N ; Voermans NC ; Gruber A ; Allen C ; Meilleur KG ; Marks AR | Germany | 03/2020Article
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Bertrand AT ; Brull A ; Azibani F ; Benarroch L ; Chikhaoui K ; Stewart CL ; Medalia O ; Ben Yaou R ; Bonne G | Switzerland | 03/2020Article
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Harr JC ; Schmid CD ; Munoz-Jimenez C ; Romero-Bueno R ; Kalck V ; Gonzalez-Sandoval A ; Hauer MH ; Padeken J ; Askjaer P ; Mattout A ; Gasser SM | United States | 03/2020Article
Salort-Campana E ; Fatehi F ; Beloribi-Djefaflia S ; Roche S ; Nguyen K ; Bernard R ; Cintas P ; Sole G ; Bouhour F ; Ollagnon E ; Sacconi S ; Echaniz-Laguna A ; Kuntzer T ; Levy N ; Magdinier F ; Attarian S | Switzerland | 03/2020Article
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Sullivan JM ; Motley WW ; Johnson JO ; Aisenberg WH ; Marshall KL ; Barwick KE ; Kong L ; Huh JS ; Saavedra-Rivera PC ; McEntagart MM ; Marion MH ; Hicklin LA ; Modarres H ; Baple EL ; Farah MH ; Zuberi AR ; Lutz CM ; Gaudet R ; Traynor BJ ; Crosby AH ; Sumner CJ | United States | 03/2020Article
Preston MK ; Tawil R ; Wang LH | 06/02/2020Initial Posting: March 8, 1999; Last Update: February 6, 2020. Clinical characteristics. Facioscapulohumeral muscular dystrophy (FSHD) typically presents with weakness of the facial muscles, the stabilizers of the scapula, or the dorsiflexor[...]Article
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Lee HH ; Wong S ; Sheng B ; Pan NK ; Leung YF ; Lau KD ; Cheng YS ; Ho LC ; Li R ; Lee CN ; Tsoi TH ; Cheung YN ; Fu YM ; Kan NA ; Chu YP ; Au WL ; Yeung HJ ; Li SH ; Cheung CM ; Tong HF ; Hung LE ; Chan TY ; Li CT ; Tong TT ; Tong TC ; Leung HC ; Lee KH ; Yeung SS ; Lee SB ; Lau TG ; Lam CW ; Mak CM ; Chan AY | Denmark | 02/2020Article
Zanoteli E ; Soares PS ; Silva AMSD ; Camelo CG ; Fonseca ATQSM ; Albuquerque MAV ; Moreno CAM ; Lopes Abath Neto O ; Novo Filho GM ; Kulikowski LD ; Reed UC | Netherlands | 02/2020Article
Frasquet M ; Camacho A ; Vilchez R ; Argente-Escrig H ; Millet E ; Vazquez-Costa JF ; Silla R ; Sánchez-Monteagudo A ; Vilchez JJ ; Espinos C ; Lupo V ; Sevilla T | England | 02/2020Article
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Ishihara S ; Okamoto Y ; Tanabe H ; Yoshimura A ; Higuchi Y ; Yuan JH ; Hashiguchi A ; Ishiura H ; Mitsui J ; Suwazono S ; Oya Y ; Sasaki M ; Nakagawa M ; Tsuji S ; Ohya Y ; Takashima H | United States | 02/2020Article
Rosenberg H ; Sambuughin N ; Riazi S ; Dirksen R | 16/01/2020Initial Posting: December 19, 2003; Last Update: January 16, 2020. Clinical characteristics. Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeleta[...]Article
Villar-Quiles RN ; Catervi F ; Cabet E ; Juntas-Morales R ; Genetti CA ; Gidaro T ; Koparir A ; Yuksel A ; Coppens S ; Deconinck N ; Pierce-Hoffman E ; Lornage X ; Durigneux J ; Laporte J ; Rendu J ; Romero NB ; Beggs AH ; Servais L ; Cossee M ; Olive M ; Bohm J ; Duband-Goulet I ; Ferreiro A | United States | 2020Article
Pellerin D ; Aykanat A ; Ellezam B ; Troiano EC ; Karamchandani J ; Dicaire MJ ; Petitclerc M ; Robertson R ; Allard-Chamard X ; Brunet D ; Konersman CG ; Mathieu J ; Warman-Chardon J ; Gupta VA ; Beggs AH ; Brais B ; Chrestian N | United States | 01/2020Article
Danhelovska T ; Kolarova H ; Zeman J ; Hansikova H ; Vaneckova M ; Lambert L ; Kucerova-Vidrova V ; Berankova K ; Honzik T ; Tesarova M | England | 01/2020Article
Alonso Perez J ; Gonzalez-Quereda L ; Bello L ; Guglieri M ; Straub V ; Gallano P ; Semplicini C ; Pegoraro E ; Zangaro V ; Nascimento A ; Ortez C ; Comi GP ; Dam LT ; de Visser M ; van der Kooi AJ ; Garrido C ; Santos M ; Schara U ; Gangfus A ; Lokken N ; Storgaard JH ; Vissing J ; Schoser B ; Dekomien G ; Udd B ; Palmio J ; D'Amico A ; Politano L ; Nigro V ; Bruno C ; Panicucci C ; Sarkozy A ; Abdel Mannan O ; Alonso-Jimenez A ; Claeys KG ; Gomez-Andres D ; Munell F ; Costa-Comellas L ; Haberlova J ; Rohlenova M ; Elke V ; De Bleecker JL ; Dominguez Gonzalez C ; Tasca G ; Weiss C ; Deconinck N ; Fernandez Torron R ; Lopez de Munain A ; Camacho-Salas A ; Melegh B ; Hadzsiev K ; Leonardis L ; Koritnik B ; Garibaldi M ; de Leon-Hernandez JC ; Malfatti E ; Fraga-Bau A ; Richard I ; Illa I ; Diaz-Manera J | England | 2020Article
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Spitali P ; Zaharieva I ; Böhringer S ; Hiller M ; Chaouch A ; Roos A ; Scotton C ; Claustres M ; Bello L ; McDonald CM ; Hoffman EP ; Koeks Z ; Eka Suchiman H ; Cirak S ; Scoto M ; Reza M ; 't Hoen PAC ; Niks EH ; Tuffery-Giraud S ; Lochmuller H ; Ferlini A ; Muntoni F ; Aartsma Rus A | England | 01/2020Article
Hellebrekers DMJ ; Doorenweerd N ; Sweere DJJ ; van Kuijk SMJ ; Aartsma Rus AM ; Klinkenberg S ; Vles JSH ; Hendriksen JGM | England | 01/2020Article
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Akesson LS ; Savarirayan R | 2020Clinical characteristics. Fibrodysplasia ossificans progressiva (FOP) is characterized by congenital bilateral hallux valgus malformations and early-onset heterotopic ossification, which may be spontaneous or precipitated by trauma including [...]Article
Landires I ; Nunez-Samudio V ; Fernandez J ; Sarria C ; Villareal V ; Cordoba F ; Apraez-Ippolito G ; Martinez S ; Vidal OM ; Velez JI ; Arcos-Holzinger M ; Landires S ; Arcos-Burgos M | Switzerland | 01/2020Article
Morales F ; Vasquez M ; Corrales E ; Vindas-Smith R ; Santamaria-Ulloa C ; Zhang B ; Sirito M ; Estecio MR ; Krahe R ; Monckton DG | England | 2020Article
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Nagappa M ; Sharma S ; Govindaraj P ; Chickabasaviah YT ; Siram R ; Shroti A ; Debnath M ; Sinha S ; Bindu PS ; Taly AB | United States | 01/2020Article
Waldrop MA ; Yaou RB ; Lucas KK ; Martin AS ; O'Rourke E ; Ferlini A ; Muntoni F ; Leturcq F ; Tuffery-Giraud S ; Weiss RB ; Flanigan KM | Netherlands | 2020Article
Evangelista T ; Lornage X ; Carlier PG ; Bassez G ; Brochier G ; Chanut A ; Lacene E ; Bui MT ; Metay C ; Oppermann U ; Bohm J ; Laporte J ; Romero NB | England | 2020Article
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Darmahkasih AJ ; Rybalsky I ; Tian C ; Shellenbarger KC ; Horn PS ; Lambert JT ; Wong BL | United States | 01/2020Article
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Preiksaitiene E ; Voisin N ; Gueneau L ; Benusiene E ; Krasovskaja N ; Blazyte EM ; Ambrozaityte L ; Rancelis T ; Reymond A ; Kucinskas V | United States | 12/2019Article
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