Genomic monitoring unveil the early detection of the SARS-CoV-2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil
09 de julio de 2021
Svetoslav N Slavov, José S L Patané , Rafael Dos Santos Bezerra, Marta Giovanetti Vagner Fonseca Antonio J Martins , Vincent L Viala , Evandra S Rodrigues, Elaine V Santos, Claudia R S Barros , Elaine C Marqueze , Bibiana Santos Flavia Aburjaile Raul M Neto , Debora B Moretti , Ricardo Haddad , Rodrigo T Calado João P Kitajima Erika Freitas David Schlesinger Luiz C Junior de Alcantara Maria C Elias , Sandra C Sampaio , Simone Kashima, Dimas T Covas
+Ver maisEarly role for a Na +,K +-ATPase ( ATP1A3) in brain development
22 de junio de 2021
Richard S Smith , Marta Florio Shyam K Akula Jennifer E Neil , Yidi Wang , R Sean Hill , Melissa Goldman Christopher D Mullally Nora Reed Luis Bello-Espinosa Laura Flores-Sarnat Fabiola Paoli Monteiro Casella B Erasmo0, Filippo Pinto E Vairo Eva Morava0, A James Barkovich Joseph Gonzalez-Heydrich Catherine A Brownstein , Steven A McCarroll Christopher A Walsh
+Ver maisAnalysis of an NGS retinopathy panel detects chromosome 1 uniparental isodisomy in a patient with RPE65-related leber congenital amaurosis
22 de junio de 2021
Fabiana Louise Motta, Rafael Filippelli-Silva , Joao Paulo Kitajima Denise A Batista Elizabeth S Wohler Nara L Sobreira Renan Paulo Martin Juliana Maria Ferraz Sallum
+Ver maisMECP2-related conditions in males: A systematic literature review and 8 additional cases
21 de junio de 2021
Luciana Midori Inuzuka, Matheus Guerra-Peixe , Lúcia Inês Macedo-Souza , Christiane Cobas Pedreira Juliana Gurgel-Gianetti Fabiola Paoli Monteiro Luiza Ramos Larissa Athayde Costa Ana Chrystina de Souza Crippa Charles Marques Lourenco Daniela Viana Pachito Lucia Sukys-Claudino Leonardo Salvador Gaspar Sergio Antonio Antoniuk Luis Paulo de Souza Dutra Sabrina Stephanie Lana Diniz Rafaelle Batistella Pires Eliana Garzon0, Fernando Kok
+Ver maisA Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant
14 de junio de 2021
Tauana Bernardes Leoni, Carelis González-Salazar, Thiago Junqueira R Rezende, Ana Luisa C Hernández, Alexandre Hilário B Mattos, Antônio Rodrigues Coimbra Neto, Felipe Franco da Graça, João Pedro Nunes Gonçalves, Alberto R M Martinez, Lucas Taniguti , João Paulo Kitajima , Fernando Kok Fábio Rogério André Macedo Serafim da Silva Alexandre Leite Rodrigues de Oliveira Edmar Zanoteli Anamarli Nucci, Marcondes C França Jr
+Ver maisChildhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
31 de mayo de 2021
Payam Mohassel, Sandra Donkervoort #, Museer A Lone # , Matthew Nalls #, Kenneth Gable # Sita D Gupta # A Reghan Foley, Ying Hu, Jonas Alex Morales Saute Ana Lucila Moreira Fernando Kok Alessandro Introna Giancarlo Logroscino Christopher Grunseich Alec R Nickolls, Naemeh Pourshafie Sarah B Neuhaus, Dimah Saade, Andrea Gangfuß0, Heike Kölbel0, Zoe Piccus, Claire E Le Pichon, Chiara Fiorillo, Cindy V LyAna Töpf Lauren Brady Sabine Specht Aliza Zidell Helio Pedro Eric Mittelmann Florian P Thomas Katherine R Chao Chamindra G Konersman , Megan T Cho , Tracy Brandt , Volker Straub Anne M Connolly , Ulrike Schara0, Andreas Roos0, Mark Tarnopolsky Ahmet Höke Robert H Brown Chia-Hsueh Lee Thorsten Hornemann , Teresa M Dunn Carsten G Bönnemann
+Ver maisThe fructose-1,6-bisphosphatase deficiency and the p.(Lys204ArgfsTer72) variant
14 de mayo de 2021
Franciele Cabral Pinheiro Rodrigo Ligabue-Braun Ana Cecília Menezes de Siqueira Camila Matuella , Carolina Fischinger Moura de Souza Fabíola Paoli Monteiro Fernando Kok Ida Vanessa Doederlein Schwartz Fernanda Sperb-Ludwig
+Ver maisRetinal Architecture in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Insights into Disease Pathogenesis and Biomarkers
23 de abril de 2021
Flávio Moura Rezende Filho, Fion Bremner , José Luiz Pedroso, João Brainer Clares de Andrade, Bruna Ferraço Marianelli Charles Marques Lourenço Wilson Marques-Júnior Marcondes C França Jr Fernando Kok Juliana M F Sallum Michael H Parkinson Orlando G Barsottini, Paola Giunti
+Ver maisSPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females
16 de febrero de 2021
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M.
+Ver maisMutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
28 de enero de 2021
den Hoed J, de Boer E, Voisin N, Dingemans AJM, Guex N, Wiel L, Nellaker C, Amudhavalli SM, Banka S, Bena FS, Ben-Zeev B, Bonagura VR, Bruel AL, Brunet T, Brunner HG, Chew HB, Chrast J, Cimbalistienė L, Coon H; DDD Study, Délot EC, Démurger F, Denommé-Pichon AS, Depienne C, Donnai D, Dyment DA, Elpeleg O, Faivre L, Gilissen C, Granger L, Haber B, Hachiya Y, Abedi YH, Hanebeck J, Hehir-Kwa JY, Horist B, Itai T, Jackson A, Jewell R, Jones KL, Joss S, Kashii H, Kato M, Kattentidt-Mouravieva AA, Kok F, Kotzaeridou U, Krishnamurthy V, Kučinskas V, Kuechler A, Lavillaureix A, Liu P, Manwaring L, Matsumoto N, Mazel B, McWalter K, Meiner V, Mikati MA, Miyatake S, Mizuguchi T, Moey LH, Mohammed S, Mor-Shaked H, Mountford H, Newbury-Ecob R, Odent S, Orec L, Osmond M, Palculict TB, Parker M, Petersen AK, Pfundt R, Preikšaitienė E, Radtke K, Ranza E, Rosenfeld JA, Santiago-Sim T, Schwager C, Sinnema M, Snijders Blok L, Spillmann RC, Stegmann APA, Thiffault I, Tran L, Vaknin-Dembinsky A, Vedovato-Dos-Santos JH, Schrier Vergano SA, Vilain E, Vitobello A, Wagner M, Waheeb A, Willing M, Zuccarelli B, Kini U, Newbury DF, Kleefstra T, Reymond A, Fisher SE, Vissers LELM.
+Ver maisDDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation
25 de enero de 2021
Prasov L, Bohnsack BL, El Husny AS, Tsoi LC, Guan B, Kahlenberg JM, Almeida E, Wang H, Cowen EW, De Jesus AA, Jani P, Billi AC, Moroi SE, Wasikowski R, Almeida I, Almeida LN, Kok F, Garnai SJ, Mian SI, Chen MY, Warner BM, Ferreira CR, Goldbach-Mansky R, Hur S, Brooks BP, Richards JE, Hufnagel RB, Gudjonsson JE.
+Ver maisParental germline mosaicism inSCN3A-related severe developmental disorder
22 de enero de 2021
Inuzuka LM, Macedo-Souza LI, Guerra-Peixe M, Cobas Pedreira C, Della-Ripa B, Souza Delgado D, Monteiro F, Kitajima JP, Garzon E, Kok F.
+Ver maisBiallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay
08 de enero de 2021
Melo US, Bonner D, Kent Lloyd KC, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, de Souza Leite F, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM.
+Ver maisIntragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
01 de septiembre de 2020
Mendonça RH, Matsui C Jr, Polido GJ, Silva AMS, Kulikowski L, Torchio Dias A, Zanardo EA, Solla DJF, Gurgel-Giannetti J, de Moura ACML, Sampaio GPC, Oliveira ASB, de Souza PVS, Pinto WBVR, Gonçalves EA, Farias IB, Nardes F, Araújo APQC, Marques W Jr, Tomaselli PJ, Ribeiro MDO, Kitajima JP, Paoli Monteiro F, Saute JAM, Becker MM, Saraiva-Pereira ML, Brusius-Facchin AC, van der Linden V, Florêncio RN, Barbosa AVS, Machado-Costa MC, Pessoa ALS, Souza LS, Franca MC Jr, Kok F, Reed UC, Zanoteli E.
+Ver maisExtensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country
17 de agosto de 2020
da Silva Filho LVRF, Maróstica PJC, Athanazio RA, Reis FJC, Damaceno N, Paes AT, Hira AY, Schlesinger D, Kok F, Amaral MD; Brazilian Cystic Fibrosis Patient Registry Contributors Team.
+Ver maisAdditional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
07 de agosto de 2020
Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Monteiro FP, Ramos L, Kitajima JP, Garzon E, Kok F.
+Ver maisA rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58
03 de junio de 2020
Lezirovitz K, Vieira-Silva GA, Batissoco AC, Levy D, Kitajima JP, Trouillet A, Ouyang E, Zebarjadi N, Sampaio-Silva J, Pedroso-Campos V, Nascimento LR, Sonoda CY, Borges VM, Vasconcelos LG, Beck RMO, Grasel SS, Jagger DJ, Grillet N, Bento RF, Mingroni-Netto RC, Oiticica J.
+Ver maisApplication of Whole-Exome Sequencing in Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations
01 de junio de 2020
Zanardo ÉA, Monteiro FP, Chehimi SN, Oliveira YG, Dias AT, Costa LA, Ramos LL, Novo-Filho GM, Montenegro MM, Nascimento AM, Kitajima JP, Kok F, Kulikowski LD.
+Ver maisATP6V1B2 – related epileptic encephalopathy
01 de junio de 2020
Inuzuka LM, Macedo-Souza LI, Della-Rippa B, Monteiro FP, Delgado DS, Godoy LF, Ramos L, de Athayde Costa LS, Garzon E, Kok F.
+Ver maisLoss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus
26 de febrero de 2020
Wagner M, Lévy J, Jung-Klawitter S, Bakhtiari S, Monteiro F, Maroofian R, Bierhals T, Hempel M, Elmaleh-Bergès M, Kitajima JP, Kim CA, Salomao JG, Amor DJ, Cooper MS, Perrin L, Pipiras E, Neu A, Doosti M, Karimiani EG, Toosi MB, Houlden H, Jin SC, Si YC, Rodan LH, Venselaar H, Kruer MC, Kok F, Hoffmann GF, Strom TM, Wortmann SB, Tabet AC, Opladen T.
+Ver maisNeurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature
12 de febrero de 2020
Inuzuka LM, Macedo-Souza LI, Della-Ripa B, Cabral KSS, Monteiro F, Kitajima JP, de Souza Godoy LF, de Souza Delgado D, Kok F, Garzon E.
+Ver maisBiallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations
12 de enero de 2020
Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F.
+Ver maisParalog Studies Augment Gene Discovery: DDX and DHX Genes
01 de agosto de 2019
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program, Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR.
+Ver maisAMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
12 de julio de 2019
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H.
+Ver maisHeterozygous loss of function of NR4A2 is associated with intellectual deficiency, rolandic epilepsy, and language impairment
11 de julio de 2019
Ramos LLP, Monteiro FP, Sampaio LPB, Costa LA, Ribeiro MDO, Freitas EL, Kitajima JP, Kok F.
+Ver maisHeterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
06 de junio de 2019
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.
+Ver maisClinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS
12 de mayo de 2019
Rezende Filho FM, Parkinson MH, Pedroso JL, Poh R, Faber I, Lourenço CM, Júnior WM, França Junior MC, Kok F, Sallum JMF, Giunti P, Barsottini OGP.
+Ver maisDe Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
07 de febrero de 2019
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stöbe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R.
+Ver maisClinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations
12 de noviembre de 2018
Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F.
+Ver maisHCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
01 de noviembre de 2018
Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.
+Ver maisProgressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation with Prominent Ataxia
30 de marzo de 2018
Godeiro Junior CO, Vale TC, Afonso COM, Kok F, Pedroso JL, Barsottini OG.
+Ver maisTwo microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction
13 de marzo de 2018
LaConte LEW, Chavan V, Elias AF, Hudson C, Schwanke C, Styren K, Shoof J, Kok F, Srivastava S, Mukherjee K.
+Ver maisCharacterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy
11 de diciembre de 2017
Calhoun JD, Vanoye CG, Kok F, George AL Jr, Kearney JA.
+Ver maisIntegrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder
24 de enero de 2017
Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simões SN, Krepischi AC, Rosenberg C, Lourenço NC, Passos-Bueno MR, Brentani H.
+Ver maisOne family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia
15 de septiembre de 2016
Abrahao A, Abath Neto O, Kok F, Zanoteli E, Santos B, Pinto WB, Barsottini OG, Oliveira AS, Pedroso JL.
+Ver maisSCA23 and prodynorphin: is it time for gene retraction?
12 de agosto de 2016
Pedroso JL, Vale TC, Freua F, Barsottini OG, Kok F.
+Ver maisA homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability
11 de agosto de 2016
Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Rusch H, Vaz F, Lucato LT, Zatz M, Kok F, Santos S.
+Ver maisBenign hereditary chorea related to NKX2-1 with ataxia and dystonia
22 de diciembre de 2015
de Gusmao CM, Kok F, Casella EB, Waugh JL.
+Ver maisOverexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
15 de diciembre de 2015
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S.
+Ver maisExpanding the Molecular and Clinical Phenotype of SSR4-CDG
07 de noviembre de 2015
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH.
+Ver maisMutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease
22 de octubre de 2015
Pedroso JL, Rocha CR, Macedo-Souza LI, De Mario V, Marques W Jr, Barsottini OG, Bulle Oliveira AS, Menck CF, Kok F.
+Ver maisMutations of GPR126 are responsible for severe arthrogryposis multiplex congenita
04 de junio de 2015
Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG.
+Ver maisAssociation of optic atrophy and type 1 diabetes: clinical hallmarks for the diagnosis of Wolfram syndrome
12 de mayo de 2015
Pedroso JL, Lucato LT, Kok F, Sallum J, Barsottini OG, Oliveira AS.
+Ver maisFatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation
03 de marzo de 2015
Pedroso JL, Handfas BW, Abrahão A, Kok F, Barsottini OG, Oliveira AS.
+Ver maisWhole-Genome Sequence of a Bordetella pertussis Brazilian Vaccine Strain
19 de febrero de 2015
Akamatsu MA, Nishiyama MY Jr, Morone M, Oliveira UC, Bezerra MF, Sakauchi MA, Raw I, Junqueira de Azevedo IL, Kitajima JP, Carvalho E, Ho PL.
+Ver maisHomozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family
12 de febrero de 2015
Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S.
+Ver maisExome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
05 de diciembre de 2014
Sperb-Ludwig F, Alegra T, Velho RV, Ludwig N, Kim CA, Kok F, Kitajima JP, van Meel E, Kornfeld S, Burin MG, Schwartz IVD.
+Ver maisA defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)
01 de agosto de 2014
Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M.
+Ver mais