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1. Full Text Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
by Koolen, D A and Sharp, A J and Hurst, J A and Firth, H V and Knight, S J L and Goldenberg, A and Saugier-Veber, P and Pfundt, R and Vissers, L E L M and Destrée, A and Grisart, B and Rooms, L and Van der Aa, N and Field, M and Hackett, A and Bell, K and Nowaczyk, M J M and Mancini, G M S and Poddighe, P J and Schwartz, C E and Rossi, E and De Gregori, M and Antonacci-Fulton, L L and McLellan, M D and Garrett, J M and Wiechert, M A and Miner, T L and Crosby, S and Ciccone, R and Willatt, L and Rauch, A and Zenker, M and Aradhya, S and Manning, M A and Strom, T M and Wagenstaller, J and Krepischi-Santos, A C and Vianna-Morgante, A M and Rosenberg, C and Price, S M and Stewart, H and Shaw-Smith, C and Brunner, H G and Wilkie, A O M and Veltman, J A and Zuffardi, O and Eichler, E E and de Vries, B B A
Journal of medical genetics, ISSN 0022-2593, 11/2008, Volume 45, Issue 11, pp. 710 - 720
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Muscle Hypotonia - epidemiology | Prevalence | Oligonucleotide Array Sequence Analysis | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Chromosome Inversion | tau Proteins | Chromosomes, Human, Pair 17 - genetics | Young Adult | Abnormalities, Multiple - epidemiology | Adult | Female | Child | Abnormalities, Multiple - genetics | Chromosome Deletion | Developmental Disabilities - physiopathology | Muscle Hypotonia - genetics | Face - pathology | Abnormalities, Multiple - physiopathology | Developmental Disabilities - epidemiology | Muscle Hypotonia - physiopathology | Adolescent | Polymorphism, Single Nucleotide | Physiological aspects | Genetic aspects | Genetic disorders | Research | Chromosomes | Mental retardation | Index Medicus
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2. Full Text Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
by Kleefstra, T and van Zelst-Stams, W A and Nillesen, W M and Cormier-Daire, V and Houge, G and Foulds, N and van Dooren, M and Willemsen, M H and Pfundt, R and Turner, A and Wilson, M and McGaughran, J and Rauch, A and Zenker, M and Adam, M P and Innes, M and Davies, C and López, A González-Meneses and Casalone, R and Weber, A and Brueton, L A and Navarro, A Delicado and Bralo, M Palomares and Venselaar, H and Stegmann, S P A and Yntema, H G and van Bokhoven, H and Brunner, H G
Journal of medical genetics, ISSN 0022-2593, 09/2009, Volume 46, Issue 9, pp. 598 - 606
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Abnormalities, Multiple - metabolism | Amino Acid Sequence | Sequence Deletion | Histone-Lysine N-Methyltransferase - genetics | Humans | Middle Aged | Child, Preschool | Molecular Sequence Data | Male | Chromosomes, Human, Pair 9 | Syndrome | Intellectual Disability - genetics | Intellectual Disability - metabolism | Histone-Lysine N-Methyltransferase - chemistry | Haploidy | Phenotype | Sequence Alignment | Histone-Lysine N-Methyltransferase - metabolism | Adolescent | Adult | Female | Child | Abnormalities, Multiple - genetics | Telomere - genetics | Haplotypes | Telomeres | Gene amplification | Usage | Chromosome deletion | Research | Epilepsy | Colleges & universities | Genomes | Hearing impairment | Patients | Defects | Proteins | Genotype & phenotype | Child development | Hernias | DNA methylation | Mutation | Deoxyribonucleic acid--DNA | Index Medicus
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3. Full Text Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
by Mulder, P. A and van Balkom, I. D. C and Landlust, A. M and Priolo, M and Menke, L. A and Acero, I. H and Alkuraya, F. S and Arias, P and Bernardini, L and Bijlsma, E. K and Cole, T and Coubes, C and Dapia, I and Davies, S and di Donato, N and Elcioglu, N. H and Fahrner, J. A and Foster, A and González, N. G and Huber, I and Iascone, M and Kaiser, A. S and Kamath, A and Kooblall, K and Lapunzina, P and Liebelt, J and Lynch, S. A and Maas, S. M and Mammì, C and Mathijssen, I. B and McKee, S and Mirzaa, G. M and Montgomery, T and Neubauer, D and Neumann, T. E and Pintomalli, L and Pisanti, M. A and Plomp, A. S and Price, S and Salter, C and Santos-Simarro, F and Sarda, P and Schanze, D and Segovia, M and Shaw-Smith, C and Smithson, S and Suri, M and Tatton-Brown, K and Tenorio, J and Thakker, R. V and Valdez, R. M and van Haeringen, A and van Hagen, J. M and Zenker, M and Zollino, M and Dunn, W. W and Piening, S and Hennekam, R. C
Journal of intellectual disability research, ISSN 0964-2633, 2020, Volume 64, Issue 12, pp. 956 - 969
NFIX variants | Marshall–Smith syndrome | sensory processing | Malan syndrome | cognition | adaptive behaviour | Social Sciences | Clinical Neurology | Life Sciences & Biomedicine | Education, Special | Education & Educational Research | Genetics & Heredity | Rehabilitation | Neurosciences & Neurology | Psychiatry | Science & Technology | Measurement | Behavioural aspects | Phenotypes | Risk behavior | Intellectual disabilities | Sensory processes | Assessment | Cognition | Adaptive behaviour | Sensory perception | Quality of life | Disability | Cognitive aspects | Variants | Social development | Challenging behaviour | Speech | Learning disabilities | Behavioural problems | Index Medicus
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4. Full Text Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis
by Flex, E and Jaiswal, M and Pantaleoni, F and Martinelli, S and Strullu, M and Fansa, E.K and Caye, A and Luca, A. De and Lepri, F and Dvorsky, R and Pannone, L and Paolacci, S and Zhang, S.C and Fodale, V and Bocchinfuso, G and Rossi, C and Burkitt-Wright, E.M and Farrotti, A and Stellacci, E and Cecchetti, S and Ferese, R and Bottero, L and Castro, S. de and Fenneteau, O and Brethon, B and Sanchez, M and Roberts, A.E and Yntema, H.G and Burgt, I. van der and Cianci, P and Bondeson, M.L and Digilio, M.C and Zampino, G and Kerr, B and Aoki, Y and Loh, M.L and Palleschi, A and Schiavi, E. Di and Care, A and Selicorni, A and Dallapiccola, B and Cirstea, I.C and Stella, L and Zenker, M and Gelb, B.D and Cave, H and Ahmadian, M.R and Tartaglia, M
Human molecular genetics, ISSN 0964-6906, 2014, Volume 23, Issue 16, pp. 4315 - 4327
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | ras Proteins - genetics | Humans | Carcinogenesis - genetics | ras Proteins - metabolism | MAP Kinase Kinase Kinases - metabolism | Signal Transduction - genetics | Extracellular Signal-Regulated MAP Kinases - metabolism | Noonan Syndrome - genetics | Caenorhabditis elegans | Mutation - physiology | Phenotype | Animals | ras Proteins - chemistry | Leukemia, Myelomonocytic, Juvenile - genetics | Oncogene Protein v-akt - metabolism | Cohort Studies | Leukemia, Myeloid, Acute - genetics | Index Medicus
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5. Full Text A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
by Sadowski, Carolin E and Lovric, Svjetlana and Ashraf, Shazia and Pabst, Werner L and Gee, Heon Yung and Kohl, Stefan and Engelmann, Susanne and Vega-Warner, Virginia and Fang, Humphrey and Halbritter, Jan and Somers, Michael J and Tan, Weizhen and Shril, Shirlee and Fessi, Inès and Lifton, Richard P and Bockenhauer, Detlef and El-Desoky, Sherif and Kari, Jameela A and Zenker, Martin and Kemper, Markus J and Mueller, Dominik and Fathy, Hanan M and Soliman, Neveen A and Hildebrandt, Friedhelm and Repetto, H.A and MacTaggart, P and Johnstone, L and Alexander, S and Hodson, E and Mache, C and Jungraithmayr, T.C and Aufricht, C and Arbeiter, K and Lilova, M and Sweeny, C and Filler, G and Licht, C and Chan, S.Y and Skalova, S and Seeman, T and Nuutinen, M and Antignac, C and Briese, S and Querfeld, U and Franke, I and Bachmann, H and Kirschstein, M and Weber, L.T and Hoppe, B and Beck, B.B and Habbig, S and Mayer, B and Büscher, R and Mallmann, R and Vester, U and Latta, K and Pohl, M and Häffner, K and Patzer, L and Henne, T and Pape, L and Schiffer, M and Schwarz, A and Kiepe, D and Schäfer, F and Tönshoff, B and Rönnefarth, G and Strehlau, J.S and Schumacher, M and Beetz, R and Klaus, G and Fehrenbach, H and Kuwertz-Broeking, E and Konrad, M and Schulze-Everding, A and Benz, M.R and Griebel, M and Hoefele, J and Muscheistes, J and Wigger, M and Bald, M and Leichter, H and Reusz, G and Louis, D and Senguttuvan, P and Aravind, R and Padmaraj, R and Manorajan, M and Nampoothiri, S and Sharma, J.S and Bagga, A and Choudry, S and Schreiber, R and Frishberg, Y and Cleper, R and Chenin, G and Gianviti, A and Al-Kandari, F and Tasic, V and Ch'ng, G.S and ... and SRNS Study Grp and SRNS Study Group and the SRNS Study Group
Journal of the American Society of Nephrology, ISSN 1046-6673, 06/2015, Volume 26, Issue 6, pp. 1279 - 1289
Life Sciences & Biomedicine | Urology & Nephrology | Science & Technology | Humans | Middle Aged | Child, Preschool | Infant | Male | Nephrotic Syndrome - genetics | Nephrotic Syndrome - congenital | Incidence | Young Adult | Adult | Female | Retrospective Studies | Genetic Predisposition to Disease - epidemiology | Child | Intracellular Signaling Peptides and Proteins - genetics | Real-Time Polymerase Chain Reaction | Genetic Association Studies | Risk Assessment | Membrane Proteins - genetics | Genotype | Phenotype | Genes, Wilms Tumor | Nephrotic Syndrome - physiopathology | Pedigree | Adolescent | Age of Onset | Nephrotic Syndrome - epidemiology | Heterozygote | Mutation | Cohort Studies | Index Medicus | SRNS | steroid-resistant nephrotic syndrome | kidney failure | FSGS | nephrosis | genetic disease | Basic Research
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6. Full Text The Fifth International Workshop on Ice Nucleation phase 2 (FIN-02): Laboratory intercomparison of ice nucleation measurements
by DeMott, Paul J and Möhler, Ottmar and Cziczo, Daniel J and Hiranuma, Naruki and Petters, Markus D and Petters, Sarah S and Belosi, Franco and Bingemer, Heinz G and Brooks, Sarah D and Budke, Carsten and Burkert-Kohn, Monika and Collier, Kristen N and Danielczok, Anja and Eppers, Oliver and Felgitsch, Laura and Garimella, Sarvesh and Grothe, Hinrich and Herenz, Paul and Hill, Thomas C. J and Höhler, Kristina and Kanji, Zamin A and Kiselev, Alexei and Koop, Thomas and Kristensen, Thomas B and Krüger, Konstantin and Kulkarni, Gourihar and Levin, Ezra J. T and Murray, Benjamin J and Nicosia, Alessia and O'Sullivan, Daniel and Peckhaus, Andreas and Polen, Michael J and Price, Hannah C and Reicher, Naama and Rothenberg, Daniel A and Rudich, Yinon and Santachiara, Gianni and Schiebel, Thea and Schrod, Jann and Seifried, Teresa M and Stratmann, Frank and Sullivan, Ryan C and Suski, Kaitlyn J and Szakáll, Miklós and Taylor, Hans P and Ullrich, Romy and Vergara-Temprado, Jesus and Wagner, Robert and Whale, Thomas F and Weber, Daniel and Welti, André and Wilson, Theodore W and Wolf, Martin J and Zenker, Jake and Pacific Northwest National Lab. (PNNL), Richland, WA (United States)
Atmospheric measurement techniques, ISSN 1867-1381, 11/2018, Volume 11, Issue 11, pp. 6231 - 6257
Meteorology & Atmospheric Sciences | Physical Sciences | Science & Technology | Aerosols | Environmental aspects | Atmospheric circulation | Nucleation | Observations | Relative humidity | Size distribution | Soil erosion | Clouds | Sandy loam | Sandy soils | Measuring instruments | Immersion | Condensation | Cloud droplets | Freezing | Cloud-climate relationships | Proteins | Temperature measurements | Filters | Water vapour | Diffusion chambers | Temperature effects | Mathematical analysis | Research methodology | Arable land | Measurement techniques | Agreements | Sampling | Collections | Aerosol size distribution | Dust clouds | Cooling | Adiabatic processes | Instruments | Dye dispersion | Workshops | Atmospheric particulates | Loam | Cloud chambers | Substrates | Particle size distribution | Collection | Measurement | Particle size | Temperature | Conferences | Methodology | Laboratories | Dust particles | Illite | Activation | Minerals | Temperature regime | Aerosol-cloud interactions | Dynamics | Humidity | Droplets | Dynamics of the atmosphere | Saturation | Adiabatic | Particulates | Ice | Data | Calibration | Water vapor | Rangefinding | Continuous flow | Soils | Dust | Ice nucleation | Submerging | Aerosol particles | Data collection | Instability | Portable equipment | Interactions | Potassium | ENVIRONMENTAL SCIENCES | Fysik | Subatomär fysik | Subatomic Physics | Naturvetenskap | Natural Sciences
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7. Full Text STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
by Stamberger, H and Nikanorova, M and Willemsen, M.H and Accorsi, P and Angriman, M and Baier, H and Benkel-Herrenbrueck, I and Benoit, V and Budetta, M and Caliebe, A and Cantalupo, G and Capovilla, G and Casara, G and Courage, C and Deprez, M and Destree, A and Dilena, R and Erasmus, C.E and Fannemel, M and Fjaer, R and Giordano, L and Helbig, K.L and Heyne, H.O and Klepper, J and Kluger, G.J and Lederer, D and Lodi, M and Maier, O and Merkenschlager, A and Michelberger, N and Minetti, C and Muhle, H and Phalin, J and Ramsey, K and Romeo, A and Schallner, J and Schanze, I and Shinawi, M and Sleegers, K and Sterbova, K and Syrbe, S and Traverso, M and Tzschach, A and Uldall, P and Coster, R. van and Verhelst, H and Viri, M and Winter, S and Wolff, M and Zenker, M and Zoccante, L and Jonghe, P. De and Helbig, I and Striano, P and Lemke, J.R and Moller, R.S and Weckhuysen, S
Neurology, ISSN 0028-3878, 2016, Volume 86, Issue 10, pp. 954 - 962
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurodevelopmental Disorders - epidemiology | Brain Diseases - epidemiology | Munc18 Proteins - genetics | Brain Diseases - diagnosis | Humans | Middle Aged | Brain Diseases - genetics | Child, Preschool | Infant | Male | Neurodevelopmental Disorders - genetics | Mutation - genetics | Epilepsy - diagnosis | Epilepsy - epidemiology | Young Adult | Adolescent | Adult | Epilepsy - genetics | Female | Child | Neurodevelopmental Disorders - diagnosis | Index Medicus | Abridged Index Medicus
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8. Full Text Heparin Induces Rat Aorta Relaxation via Integrin-Dependent Activation of Muscarinic M-3 Receptors
by Paredes-Gamero, Edgar J and Medeiros, Valquiria P and Farias, Eduardo H. C and Justo, Giselle Z and Trindade, Edvaldo S and Andrade-Lopes, Ana L and Godinho, Rosely O and de Miranda, Antonio and Ferreira, Alice T and Tersariol, Ivarne L. S and Nader, Helena B
Hypertension (Dallas, Tex. 1979), ISSN 0194-911X, 10/2010, Volume 56, Issue 4, pp. 713 - U282
Peripheral Vascular Disease | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology
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