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Showing 1 to 12 of 23992 entries
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The LIFE-Adult-Study: objectives and design of a population-based cohort study with 10,000 deeply phenotyped adults in Germany.

BMC public health

Loeffler M, Engel C, Ahnert P, Alfermann D, Arelin K, Baber R, Beutner F, Binder H, Brähler E, Burkhardt R, Ceglarek U, Enzenbach C, Fuchs M, Glaesmer H, Girlich F, Hagendorff A, Häntzsch M, Hegerl U, Henger S, Hensch T, Hinz A, Holzendorf V, Husser D, Kersting A, Kiel A, Kirsten T, Kratzsch J, Krohn K, Luck T, Melzer S, Netto J, Nüchter M, Raschpichler M, Rauscher FG, Riedel-Heller SG, Sander C, Scholz M, Schönknecht P, Schroeter ML, Simon JC, Speer R, Stäker J, Stein R, Stöbel-Richter Y, Stumvoll M, Tarnok A, Teren A, Teupser D, Then FS, Tönjes A, Treudler R, Villringer A, Weissgerber A, Wiedemann P, Zachariae S, Wirkner K, Thiery J.
PMID: 26197779
BMC Public Health. 2015 Jul 22;15:691. doi: 10.1186/s12889-015-1983-z.

BACKGROUND: The LIFE-Adult-Study is a population-based cohort study, which has recently completed the baseline examination of 10,000 randomly selected participants from Leipzig, a major city with 550,000 inhabitants in the east of Germany. It is the first study of...

GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.

Molecular psychiatry

Trampush JW, Yang ML, Yu J, Knowles E, Davies G, Liewald DC, Starr JM, Djurovic S, Melle I, Sundet K, Christoforou A, Reinvang I, DeRosse P, Lundervold AJ, Steen VM, Espeseth T, Räikkönen K, Widen E, Palotie A, Eriksson JG, Giegling I, Konte B, Roussos P, Giakoumaki S, Burdick KE, Payton A, Ollier W, Horan M, Chiba-Falek O, Attix DK, Need AC, Cirulli ET, Voineskos AN, Stefanis NC, Avramopoulos D, Hatzimanolis A, Arking DE, Smyrnis N, Bilder RM, Freimer NA, Cannon TD, London E, Poldrack RA, Sabb FW, Congdon E, Conley ED, Scult MA, Dickinson D, Straub RE, Donohoe G, Morris D, Corvin A, Gill M, Hariri AR, Weinberger DR, Pendleton N, Bitsios P, Rujescu D, Lahti J, Le Hellard S, Keller MC, Andreassen OA, Deary IJ, Glahn DC, Malhotra AK, Lencz T.
PMID: 28093568
Mol Psychiatry. 2017 Mar;22(3):336-345. doi: 10.1038/mp.2016.244. Epub 2017 Jan 17.

The complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS...

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analysing...

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.

Human mutation

Scala M, Wortmann SB, Kaya N, Stellingwerff MD, Pistorio A, Glamuzina E, van Karnebeek CD, Skrypnyk C, Iwanicka-Pronicka K, Piekutowska-Abramczuk D, Ciara E, Tort F, Sheidley B, Poduri A, Jayakar P, Jayakar A, Upadia J, Walano N, Haack TB, Prokisch H, Aldhalaan H, Karimiani EG, Yildiz Y, Ceylan AC, Santiago-Sim T, Dameron A, Yang H, Toosi MB, Ashrafzadeh F, Akhondian J, Imannezhad S, Mirzadeh HS, Maqbool S, Farid A, Al-Muhaizea MA, Alshwameen MO, Aldowsari L, Alsagob M, Alyousef A, AlMass R, AlHargan A, Alwadei AH, AlRasheed MM, Colak D, Alqudairy H, Khan S, Lines MA, García Cazorla MÁ, Ribes A, Morava E, Bibi F, Haider S, Ferla MP, Taylor JC, Alsaif HS, Firdous A, Hashem M, Shashkin C, Koneev K, Kaiyrzhanov R, Efthymiou S, Genomics QS, Schmitt-Mechelke T, Ziegler A, Issa MY, Elbendary HM, Striano P, Alkuraya FS, Zaki MS, Gleeson JG, Barakat TS, Bierau J, van der Knaap MS, Maroofian R, Houlden H.
PMID: 34989426
Hum Mutat. 2022 Jan 06; doi: 10.1002/humu.24326. Epub 2022 Jan 06.

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing...

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage.

American journal of human genetics

Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, Zhao X, Li J, Chen A, Zhang W, Wong HG, Qin Y, Zhao H, Chen Y, Li P, Ma T, Wang WJ, Kwok YK, Jiang Y, Pursley AN, Chung JPW, Hong Y, Kristiansen K, Yang H, Piña-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ.
PMID: 31679651
Am J Hum Genet. 2019 Dec 05;105(6):1102-1111. doi: 10.1016/j.ajhg.2019.10.003. Epub 2019 Oct 31.

Recurrent miscarriage (RM) affects millions of couples globally, and half of them have no demonstrated etiology. Genome sequencing (GS) is an enhanced and novel cytogenetic tool to define the contribution of chromosomal abnormalities in human diseases. In this study...

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Annals of neurology

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB.
PMID: 29205472
Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110.

OBJECTIVE: 3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.METHODS: This multicenter study addressed the course of disease for each organ system. Metabolic, neuroradiological, and genetic findings are reported.RESULTS: Sixty-seven individuals (39...

Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.

American journal of human genetics

Dai P, Huang LH, Wang GJ, Gao X, Qu CY, Chen XW, Ma FR, Zhang J, Xing WL, Xi SY, Ma BR, Pan Y, Cheng XH, Duan H, Yuan YY, Zhao LP, Chang L, Gao RZ, Liu HH, Zhang W, Huang SS, Kang DY, Liang W, Zhang K, Jiang H, Guo YL, Zhou Y, Zhang WX, Lyu F, Jin YN, Zhou Z, Lu HL, Zhang X, Liu P, Ke J, Hao JS, Huang HM, Jiang D, Ni X, Long M, Zhang L, Qiao J, Morton CC, Liu XZ, Cheng J, Han DM.
PMID: 31564438
Am J Hum Genet. 2019 Oct 03;105(4):803-812. doi: 10.1016/j.ajhg.2019.09.003. Epub 2019 Sep 26.

Concurrent hearing and genetic screening of newborns is expected to play important roles not only in early detection and diagnosis of congenital deafness, which triggers intervention, but also in predicting late-onset and progressive hearing loss and identifying individuals who...

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.

American journal of human genetics

Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W, Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG.
PMID: 34715011
Am J Hum Genet. 2021 Nov 04;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28.

Human mitochondrial RNase P (mt-RNase P) is responsible for 5' end processing of mitochondrial precursor tRNAs, a vital step in mitochondrial RNA maturation, and is comprised of three protein subunits: TRMT10C, SDR5C1 (HSD10), and PRORP. Pathogenic variants in TRMT10C...

TCERG1L allelic variation is associated with cisplatin-induced hearing loss in childhood cancer, a PanCareLIFE study.

NPJ precision oncology

Meijer AJM, Diepstraten FA, Langer T, Broer L, Domingo IK, Clemens E, Uitterlinden AG, de Vries ACH, van Grotel M, Vermeij WP, Ozinga RA, Binder H, Byrne J, van Dulmen-den Broeder E, Garrè ML, Grabow D, Kaatsch P, Kaiser M, Kenborg L, Winther JF, Rechnitzer C, Hasle H, Kepak T, Kepakova K, Tissing WJE, van der Kooi ALF, Kremer LCM, Kruseova J, Pluijm SMF, Kuehni CE, van der Pal HJH, Parfitt R, Spix C, Tillmanns A, Deuster D, Matulat P, Calaminus G, Hoetink AE, Elsner S, Gebauer J, Haupt R, Lackner H, Blattmann C, Neggers SJCMM, Rassekh SR, Wright GEB, Brooks B, Nagtegaal AP, Drögemöller BI, Ross CJD, Bhavsar AP, Am Zehnhoff-Dinnesen AG, Carleton BC, Zolk O, van den Heuvel-Eibrink MM.
PMID: 34262104
NPJ Precis Oncol. 2021 Jul 14;5(1):64. doi: 10.1038/s41698-021-00178-z.

In children with cancer, the heterogeneity in ototoxicity occurrence after similar treatment suggests a role for genetic susceptibility. Using a genome-wide association study (GWAS) approach, we identified a genetic variant in TCERG1L (rs893507) to be associated with hearing loss...

Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.

Nature communications

Gallagher CS, Mäkinen N, Harris HR, Rahmioglu N, Uimari O, Cook JP, Shigesi N, Ferreira T, Velez-Edwards DR, Edwards TL, Mortlock S, Ruhioglu Z, Day F, Becker CM, Karhunen V, Martikainen H, Järvelin MR, Cantor RM, Ridker PM, Terry KL, Buring JE, Gordon SD, Medland SE, Montgomery GW, Nyholt DR, Hinds DA, Tung JY, Perry JRB, Lind PA, Painter JN, Martin NG, Morris AP, Chasman DI, Missmer SA, Zondervan KT, Morton CC.
PMID: 31649266
Nat Commun. 2019 Oct 24;10(1):4857. doi: 10.1038/s41467-019-12536-4.

Uterine leiomyomata (UL) are the most common neoplasms of the female reproductive tract and primary cause for hysterectomy, leading to considerable morbidity and high economic burden. Here we conduct a GWAS meta-analysis in 35,474 cases and 267,505 female controls...

Appropriateness for SARS-CoV-2 vaccination for otolaryngologist and head and neck surgeons in case of pregnancy, breastfeeding, or childbearing potential: Yo-IFOS and CEORL-HNS joint clinical consensus statement.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Saibene AM, Allevi F, Ayad T, Baudoin T, Bernal-Sprekelsen M, Briganti G, Carrie S, Cayé-Thomasen P, Dahman Saidi S, Dauby N, Fenton J, Golusiński W, Klimek L, Leclerc AA, Longtin Y, Mannelli G, Mayo-Yáñez M, Meço C, Metwaly O, Mouawad F, Niemczyk K, Pedersen U, Piersiala K, Plzak J, Remacle M, Rommel N, Saleh H, Szpecht D, Tedla M, Tincati C, Tucciarone M, Zelenik K, Lechien JR.
PMID: 33855628
Eur Arch Otorhinolaryngol. 2021 Oct;278(10):4091-4099. doi: 10.1007/s00405-021-06794-6. Epub 2021 Apr 15.

PURPOSE: SARS-CoV-2 vaccines are a key step in fighting the pandemic. Nevertheless, their rapid development did not allow for testing among specific population subgroups such as pregnant and breastfeeding women, or elaborating specific guidelines for healthcare personnel working in...

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.

Disease models & mechanisms

Zazo Seco C, Castells-Nobau A, Joo SH, Schraders M, Foo JN, van der Voet M, Velan SS, Nijhof B, Oostrik J, de Vrieze E, Katana R, Mansoor A, Huynen M, Szklarczyk R, Oti M, Tranebjærg L, van Wijk E, Scheffer-de Gooyert JM, Siddique S, Baets J, de Jonghe P, Kazmi SA, Sadananthan SA, van de Warrenburg BP, Khor CC, Göpfert MC, Qamar R, Schenck A, Kremer H, Siddiqi S.
PMID: 28067622
Dis Model Mech. 2017 Feb 01;10(2):105-118. doi: 10.1242/dmm.026476. Epub 2016 Dec 15.

A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a...

Showing 1 to 12 of 23992 entries