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by Fitzgerald, T.W and Gerety, S.S and Jones, W.D and Van Kogelenberg, M and King, D.A and McRae, J and Morley, K.I and Parthiban, V and Al-Turki, S and Ambridge, K and Barrett, D.M and Bayzetinova, T and Clayton, S and Coomber, E.L and Gribble, S and Jones, P and Krishnappa, N and Mason, L.E and Middleton, A and Miller, R and Prigmore, E and Rajan, D and Sifrim, A and Tivey, A.R and Ahmed, M and Akawi, N and Andrews, R and Anjum, U and Archer, H and Armstrong, R and Balasubramanian, M and Banerjee, R and Baralle, D and Batstone, P and Baty, D and Bennett, C and Berg, J and Bernhard, B and Bevan, A.P and Blair, E and Blyth, M and Bohanna, D and Bourdon, L and Bourn, D and Brady, A and Bragin, E and Brewer, C and Brueton, L and Brunstrom, K and Bumpstead, S.J and Bunyan, D.J and Burn, J and Burton, J and Canham, N and Castle, B and Chandler, K and Clasper, S and Clayton-Smith, J and Cole, T and Collins, A and Collinson, M.N and Connell, F and Cooper, N and Cox, H and Cresswell, L and Cross, G and Crow, Y and D'Alessandro, M and Dabir, T and Davidson, R and Davies, S and Dean, J and Deshpande, C and Devlin, G and Dixit, A and Dominiczak, A and Donnelly, C and Donnelly, D and Douglas, A and Duncan, A and Eason, J and Edkins, S and Ellard, S and Ellis, P and Elmslie, F and Evans, K and Everest, S and Fendick, T and Fisher, R and Flinter, F and Foulds, N and Fryer, A and Fu, B and Gardiner, C and Gaunt, L and Ghali, N and Gibbons, R and Gomes Pereira, S.L and Goodship, J and Goudie, D and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study and The Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 03/2015, Volume 519, Issue 7542, pp. 223 - 228
Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders(1), up to half of children with... 
INTELLECTUAL DISABILITY | HUMAN-DISEASE | DE-NOVO MUTATIONS | MULTIDISCIPLINARY SCIENCES | FRAMEWORK | MODEL | AUTISM SPECTRUM DISORDERS | COPY-NUMBER VARIATION | CHILDREN | Rare Diseases - genetics | Humans | Parents | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Dynamin I - genetics | Mutation, Missense - genetics | Polycomb Repressive Complex 1 - genetics | Gene Expression Regulation, Developmental | Transposases - genetics | Female | Nuclear Proteins - genetics | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Guanine Nucleotide Exchange Factors - genetics | Protein Phosphatase 2 - genetics | Protein-Serine-Threonine Kinases - genetics | United Kingdom | Phosphoproteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Genome, Human - genetics | Homeodomain Proteins - genetics | Zebrafish - genetics | Chromosomal Proteins, Non-Histone - genetics | Carrier Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Animals | Adolescent | Chromosome Aberrations | Genes, Dominant - genetics | Usage | Genomics | Child development deviations | Genetic aspects | Research | Risk factors | Developmental disabilities | Studies | Hypotheses | Genes | Developmental psychology | Families & family life | Genomes | Mutation | Children & youth
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature, ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Science (New York, N.Y.), ISSN 0036-8075, 05/2019, Volume 364, Issue 6442, pp. 749 - 749
Journal Article
by Legendre, C and Cohen, D and Delmas, Y and Feldkamp, T and Fouque, D and Furman, R and Gaber, O and Greenbaum, L and Goodship, T and Haller, H and Herthelius, M and Hourmant, M and Licht, C and Moulin, B and Sheerin, N and Trivelli, A and Bedrosian, C. L and Loirat, C and Babu, S and Jungraithmayr, T and Lebranchu, Y and Riedl, M and Gaber, A. O and Bedrosian, C and Muus, P and Douglas, K and Remuzzi, G and Kourouklaris, A and Ioannou, K and Athanasiou, I and Demetriou, K and Panagidou, A and Zavros, M and Rodriguez C, N. Y and Blasco, M and Arcal, C and Quintana, L. F and Rodriguez de Cordoba, S and Campistol, J. M and Bachmann, N and Eisenberger, T and Decker, C and Bolz, H. J and Bergmann, C and Pesce, F and Cox, S. N and Serino, G and De Palma, G and Sallustio, F. P and Schena, F and Falchi, M and Pieri, M and Stefanou, C and Zaravinos, A and Erguler, K and Lapathitis, G and Dweep, H and Sticht, C and Anastasiadou, N and Zouvani, I and Voskarides, K and Gretz, N and Deltas, C. C and Ruiz, A and Bonny, O and Sallustio, F and Curci, C and Cox, S and Kemter, E and Sklenak, S and Aigner, B and Wanke, R and Kitzler, T. M and Moskowitz, J. L and Piret, S. E and Lhotta, K and Tashman, A and Velez, E and Thakker, R. V and Kotanko, P and Leierer, J and Rudnicki, M and Perco, P and Koppelstaetter, C and Mayer, G and Sa, M. J. N and Alves, S and Storey, H and Flinter, F and Willems, P. J and Carvalho, F and Oliveira, J and Arsali, M and Papazachariou, L and Demosthenous, P and Lazarou, A and Hadjigavriel, M and Stavrou, C and Yioukkas, L and Deltas, C and ...
Nephrology Dialysis Transplantation, ISSN 0931-0509, 05/2013, Volume 28, Issue suppl 1, pp. i309 - i321
Journal Article
by Thornhill, A and Wheat, S and Al-Shenar, S and Atalla, N and Menabawey, M and Summers, M and Giles, J and Vidal, C and Alama, P and Bosch, E and Zuzuarregui, J. L and Pellicer, A and Nelen, W. L. D. M and den Breejen, E. M. E and Schol, S. F. E and Kremer, J. A. M and Hermens, R. P. M. G and Nagai, R and Fukunaga, N and Kitasaka, H and Yoshimura, T and Itoi, F and Tamura, F and Kitamura, K and Hasegawa, N and Kato, M and Nakayama, K and Honma, H and Oguri, H and Sano, M and Hashiba, Y and Asada, Y and Galama, W. H and Willemsen, W. N and Lashwood, A and Solomonides, A and Olive, M and Harton, G and Patch, C and Flinter, F and Mendoza, R and Perez, S and de los Santos, M. J and Larreategui, Z and Exposito, A and Aparicio, M. V and Martinez Indart, L and Matorras, R and Sato, Y and Nakamura, Y and Sakamoto, E and Tasaka, A and Usui, K and Hattori, H and Ito, Y and Nakajo, Y and Doshida, M and Kyono, K and Koike, A and Haruki, A and Horiuchi, R and Sugihara, K and Fukuda, A and Morimoto, Y and Cambiaghi, A and Leao, R and Castellotti, D and Nascimento, P and Molina Gonzalez, I and Clavero Gilabert, A and Gonzalvo Lopez, M. C and Rosales Martinez, A and Martinez Navarro, L and Mozas Moreno, J and Castilla Alcala, J. A and Fleischer, K and Muller, A. F and Hohmann, F. P and de Jong, F. H and Eijkemans, M. J. C and Fauser, B. C and Laven, J. S. E and Bonduelle, M and Van Landuyt, L and Stoop, D and Van de Velde, H and Verheyen, G and Haentjens, P and Desmyttere, S and Carlos, R. V and Setti, A. S and Braga, D. P. A. F and Figueira, R. C. S and Iaconelli Jr, A and Borges Jr, E and Bariani, F and Vespasiano, F and Puoti, F and Fehily, D and Porta, E and ...
Human Reproduction, ISSN 0268-1161, 07/2011, Volume 26, Issue suppl_1, pp. i272 - i278
Journal Article
by Shen, JK and Tryon, DN and Myklak, KC and Alsyouf, MM and Peplinski, BS and Conceicao, C and Ruckle, HC and Baldwin, DD and Liu, LZQ and Johnson, LJ and Davenport, DL and Venkatesh, R and Soria, F and Morcillo, E and De la Cruz, J and Serrano, A and Rioja, J and Budia, A and Fernandez, T and Fernandez, I and Bachiller, J and Sanchez, FM and Lee, BR and Callaghan, C and Mandava, SH and Peralta, D and Bouljihad, M and Dash, SD and Liu, JL and Tarr, MT and Maddox, MM and Lai, WL and Jordão, RJ and Bandeira, RAST and Leite, KR and Miranda, EP and Srougi, M Miguel and Tefik, T and Seitz, C and Brehmer, M and Osther, P and Giusti, G and Rassweiler, JR and Grasso, MG and Preminger, GP and Pearle, MP and Traxer, OT and Lee, JW and Lee, MY and Oh, TH and Kwon, WA and Park, SC and Jeong, H J and Seo, I Y and Patankar, SBP and Smith, YS and Yallappa, S and Polson, P and Subramonian, K and Fukai, YF and Ishii, T and Igarashi, T and Lamb, BW and Lettin, J and Cook, J and Malik, S and Graham, S and Elhage, O and Sakellariou, C and Smith, Ra and Galustian, C and Dasgupta, P and Olweny, E and Zhang, Z and Haimovich, B and Kwon, YS and Lu, T and Fyfe-Kirschner, BFK and Kim, DSK and Choi, T and Yoo, KH and Jeon, S and Shahrour, K and Keck, R and Jankun, J and Ball, MW and Readal, NT and Gorin, MA and Pierorazio, PM and Allaf, ME and Kallidonis, P and Vasilas, M and Panagopoulos, VP and Amanatides, LA and Kyriazis, IK and Vrettos, T and Fligkou, F and Liatsikos, E and Lovegrove, CE and Novara, G and ...
Journal of Endourology, ISSN 0892-7790, 10/2015, Volume 29, Issue S1, pp. P1 - A457
Journal Article
by Ansari, Morad and Poke, Gemma and Ferry, Quentin and Williamson, Kathleen and Aldridge, Roland and Meynert, Alison M and Bengani, Hemant and Chan, Cheng Yee and Kayserili, Hülya and Avci, Şahin and Hennekam, Raoul C M and Lampe, Anne K and Redeker, Egbert and Homfray, Tessa and Ross, Alison and Falkenberg Smeland, Marie and Mansour, Sahar and Parker, Michael J and Cook, Jacqueline A and Splitt, Miranda and Fisher, Richard B and Fryer, Alan and Magee, Alex C and Wilkie, Andrew and Barnicoat, Angela and Brady, Angela F and Cooper, Nicola S and Mercer, Catherine and Deshpande, Charu and Bennett, Christopher P and Pilz, Daniela T and Ruddy, Deborah and Cilliers, Deirdre and Johnson, Diana S and Josifova, Dragana and Rosser, Elisabeth and Thompson, Elizabeth M and Wakeling, Emma and Kinning, Esther and Stewart, Fiona and Flinter, Frances and Girisha, Katta M and Cox, Helen and Firth, Helen V and Kingston, Helen and Wee, Jamie S and Hurst, Jane A and Clayton-Smith, Jill and Tolmie, John and Vogt, Julie and Tatton–Brown, Katrina and Chandler, Kate and Prescott, Katrina and Wilson, Louise and Behnam, Mahdiyeh and McEntagart, Meriel and Davidson, Rosemarie and Lynch, Sally-Ann and Sisodiya, Sanjay and Mehta, Sarju G and McKee, Shane A and Mohammed, Shehla and Holden, Simon and Park, Soo-Mi and Holder, Susan E and Harrison, Victoria and McConnell, Vivienne and Lam, Wayne K and Green, Andrew J and Donnai, Dian and Bitner-Glindzicz, Maria and Donnelly, Deirdre E and Nellåker, Christoffer and Taylor, Martin S and FitzPatrick, David R
Journal of Medical Genetics, ISSN 0022-2593, 10/2014, Volume 51, Issue 10, pp. 659 - 668
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/1999, Volume 36, Issue 6, pp. 437 - 446
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental... 
Heterozygotes | Renal malformation | Bardet-Biedl syndrome | Diagnosis | OBESITY | FAMILIES | GENETICS & HEREDITY | PHENOTYPE | diagnosis | heterozygotes | RENAL-DISEASE | renal malformation | LINKAGE | SYNDROME LOCUS | Cataracts | Obesity | Congenital diseases | Intellectual disabilities | Mortality | Cardiovascular disease | Males | Patients | Cysts | Questionnaires | Speech | Ataxia | Learning disabilities | Society | Diabetes | Age | Astigmatism
Journal Article