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327 results on '"Dieterich K"'

5. Prevalence and Characteristics of Children with Mild Intellectual Disability in a French County

Author

David, M., Dieterich, K., Billette de Villemeur, A., Jouk, P.-S, Counillon, J., Larroque, B., Bloch, J., and Cans, C.

Abstract

Background: Studies conducted on mild intellectual disability (MID) in children are infrequent and the prevalence rates vary widely. This study aimed to estimate the prevalence of MID in children in a French county (Isère), to describe the clinical signs and associated comorbidities, and to specify the aetiologies of this disability. Methods: The target population was comprised of the 15?100 children born in 1997 residing in Isère County, France, in 2008. Our goal was to find the children in this group with MID diagnosed between 9 and 13 years of age. MID was defined as an overall IQ score of between 50 and 69 [International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10)]; this definition was adjusted for the study by integrating confidence intervals so that the risk of IQ measurement relativity and possible discrepancy of scores could be taken into account. Children were identified through an administrative data source designed to assist disabled persons that contains health information, and an educational data source. Parents who agreed to let their children participate responded to an in-depth questionnaire on their child's medical and academic history. A genetic investigation was proposed for those children whose MID had an unknown aetiology. Results: The preliminary selection included 267 children, resulting in a prevalence rate of 18 per 1000 (CI [15.6; 19.9]), within the expected mean. Of these 267 cases, 181 families agreed to participate in the study (68%). MID more often affected boys [male gender ratio?=?1.4 (CI [1.2; 1.6])], low socioeconomic groups, and families with a history of intellectual disability. The clinical signs and comorbidities associated with MID were very frequent, with 54% spoken language disorders and 10% pervasive developmental disorder. Only 9% of the children had undergone a genetic investigation before the study. The known aetiology rate for MID was 19% among all the children who had had genetic tests performed. Conclusion: MID is an important public health issue based on its prevalence. The associated clinical signs and comorbidities may be warning signs of MID in case of learning difficulties. This study may help decision-makers to develop and organise screening and care for MID.

Published
2014
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7. The Collaborative Iron Triangle: A New Tool for Supporting a Project-Culture-Aware Management in Interorganizational R&D Projects

Author

Dieterich, K., Spath, Dieter, Ohlhausen, Peter, and Publica

Subjects
project management, collaborative design, collaborative iron triangle, management tool, open innovation
Abstract

Since project managers still face problems in managing interorganizational R&D projects, it is a promising approach to manage these projects project-culturally-aware. However, an important prerequisite for a project-culture-aware management is that the involved individual organizations pursue a collaborative strategy. Therefore, our article provides a conceptual approach including a new tool, the Collaborative Iron Triangle, which supports both project sponsors and managers in different phases of the collaboration process to pursue a collaborative strategy in interorganizational R&D projects.

Published
2022

12. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Author

D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Blaumeiser, Bettina, Kooy, Frank, Other departments, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Knoers, VA., Martinet, D., Belfiore, M., Cuvellier, JC., de Vries, B., Delrue, MA., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Minet, JC., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, BH., Koolen, DA., Vulto-van Silfhout, A., de Leeuw, N., Rosenfeld, JA., Filges, I., Achatz, E., Roetzer, KM., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, PM., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, GP., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Fréminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, RF., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, AL., Benedetti, M., Berg, J., Berman, J., Berry, LN., Bibb, AL., Blaskey, L., Brennan, J., Brewton, CM., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, AG., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, JE., Evans, YL., Findlay, A., Fischbach, GD., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, SE., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, FI., Jenkins J.<Suffix>3rd</Suffix>, Jeremy, RJ., Johnson, K., Kanne, SM., Kessler, S., Khan, SY., Ku, M., Kuschner, E., Laakman, AL., Lam, P., Lasala, MW., Lee, H., LaGuerre, K., Levy, S., Lian Cavanagh, A., Llorens, AV., Loftus Campe, K., Luks, TL., Marco, EJ., Martin, S., Martin, AJ., Marzano, G., Masson, C., McGovern, KE., McNally Keehn, R., Miller, DT., Miller, FK., Moss, TJ., Murray, R., Nagarajan, SS., Nowell, KP., Owen, J., Paal, AM., Packer, A., Page, PZ., Paul, BM., Peters, A., Peterson, D., Poduri, A., Pojman, NJ., Porche, K., Proud, MB., Qasmieh, S., Ramocki, MB., Reilly, B., Roberts, TP., Shaw, D., Sinha, T., Smith-Packard, B., Snow Gallagher, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)

Subjects
Male, 0301 basic medicine, Proband, Pediatrics, Autism Spectrum Disorder, Developmental Disabilities, Chromosome Disorders, Comorbidity, Nonverbal learning disorder, Cohort Studies, Cognition, 0302 clinical medicine, Cerebellum, Chromosome Duplication, Gene duplication, Copy-number variation, Non-U.S. Gov't, Child, 2. Zero hunger, Intelligence quotient, Research Support, Non-U.S. Gov't, Middle Aged, Psychiatry and Mental health, Microcephaly, Female, Schizophrenic Psychology, Chromosome Deletion, Psychology, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Human, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Research Support, Nervous System Malformations, Article, Chromosomes, Young Adult, 03 medical and health sciences, Intellectual Disability, Journal Article, medicine, Humans, Autistic Disorder, Preschool, Psychiatry, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Epilepsy, Pair 16, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Case-control study, Autism Spectrum Disorder/epidemiology, Autism Spectrum Disorder/genetics, Autistic Disorder/epidemiology, Autistic Disorder/genetics, Case-Control Studies, Cerebellum/abnormalities, Child, Preschool, Chromosome Disorders/epidemiology, Chromosome Disorders/genetics, Chromosomes, Human, Pair 16/genetics, Developmental Disabilities/epidemiology, Developmental Disabilities/genetics, Epilepsy/epidemiology, Epilepsy/genetics, Intellectual Disability/epidemiology, Intellectual Disability/genetics, Microcephaly/epidemiology, Microcephaly/genetics, Nervous System Malformations/epidemiology, Nervous System Malformations/genetics, Schizophrenia/epidemiology, Schizophrenia/genetics, medicine.disease, 030104 developmental biology, Chromosomes, Human, Pair 16, Schizophrenia, Autism, Human medicine, 030217 neurology & neurosurgery
Abstract

Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as decreased body mass index (BMI). OBJECTIVES: To characterize the effects of the 16p11.2 duplication on cognitive, behavioral, medical, and anthropometric traits and to understand the specificity of these effects by systematically comparing results in duplication carriers and reciprocal deletion carriers, who are also at risk for ASD. DESIGN, SETTING, AND PARTICIPANTS: This international cohort study of 1006 study participants compared 270 duplication carriers with their 102 intrafamilial control individuals, 390 reciprocal deletion carriers, and 244 deletion controls from European and North American cohorts. Data were collected from August 1, 2010, to May 31, 2015 and analyzed from January 1 to August 14, 2015. Linear mixed models were used to estimate the effect of the duplication and deletion on clinical traits by comparison with noncarrier relatives. MAIN OUTCOMES AND MEASURES: Findings on the Full-Scale IQ (FSIQ), Nonverbal IQ, and Verbal IQ; the presence of ASD or other DSM-IV diagnoses; BMI; head circumference; and medical data. RESULTS: Among the 1006 study participants, the duplication was associated with a mean FSIQ score that was lower by 26.3 points between proband carriers and noncarrier relatives and a lower mean FSIQ score (16.2-11.4 points) in nonproband carriers. The mean overall effect of the deletion was similar (-22.1 points; P < .001). However, broad variation in FSIQ was found, with a 19.4- and 2.0-fold increase in the proportion of FSIQ scores that were very low (100) compared with the deletion group (P < .001). Parental FSIQ predicted part of this variation (approximately 36.0% in hereditary probands). Although the frequency of ASD was similar in deletion and duplication proband carriers (16.0% and 20.0%, respectively), the FSIQ was significantly lower (by 26.3 points) in the duplication probands with ASD. There also were lower head circumference and BMI measurements among duplication carriers, which is consistent with the findings of previous studies. CONCLUSIONS AND RELEVANCE: The mean effect of the duplication on cognition is similar to that of the reciprocal deletion, but the variance in the duplication is significantly higher, with severe and mild subgroups not observed with the deletion. These results suggest that additional genetic and familial factors contribute to this variability. Additional studies will be necessary to characterize the predictors of cognitive deficits.

Published
2016

14. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Author

Mattioli, F. (Francesca), Schaefer, E. (Elise), Magee, A. (Alex), Mark, P. (Paul), Mancini, G.M.S. (Grazia), Dieterich, K. (Klaus), Von Allmen, G. (Gretchen), Alders, M. (Marielle), Coutton, C. (Charles), Slegtenhorst, M.A. (Marjon) van, Vieville, G. (Gaëlle), Engelen, M. (Mark), Cobben, J.M. (Jan Maarten), Juusola, J. (Jane), Pujol, A. (Aurora), Mandel, J.-L. (Jean-Louis), Piton, A. (Amélie), Mattioli, F. (Francesca), Schaefer, E. (Elise), Magee, A. (Alex), Mark, P. (Paul), Mancini, G.M.S. (Grazia), Dieterich, K. (Klaus), Von Allmen, G. (Gretchen), Alders, M. (Marielle), Coutton, C. (Charles), Slegtenhorst, M.A. (Marjon) van, Vieville, G. (Gaëlle), Engelen, M. (Mark), Cobben, J.M. (Jan Maarten), Juusola, J. (Jane), Pujol, A. (Aurora), Mandel, J.-L. (Jean-Louis), and Piton, A. (Amélie)

Abstract

Intellectual disability (ID) is a common neurodevelopmental disorder exhibiting extreme genetic heterogeneity, and more than 500 genes have been implicated in Mendelian forms of ID. We performed exome sequencing in a large family affected by an autosomal-dominant form of mild syndromic ID with ptosis, growth retardation, and hypotonia, and we identified an inherited 2 bp deletion causing a frameshift in BRPF1 (c.1052_1053del) in five affected family members. BRPF1 encodes a protein modifier of two histone acetyltransferases associated with ID: KAT6A (also known as MOZ or MYST3) and KAT6B (MORF or MYST4). The mRNA transcript was not significantly reduced in affected fibroblasts and most likely produces a truncated protein (p.Val351Glyfs*8). The protein variant shows an aberrant cellular location, loss of certain protein interactions, and decreased histone H3K23 acetylation. We identified BRPF1 deletions or point mutations in six additional individuals with a similar phenotype. Deletions of the 3p25 region, containing BRPF1 and SETD5, cause a defined ID syndrome where most of the clinical features are attributed to SETD5 deficiency. We compared the clinical symptoms of individuals carrying mutations or small deletions of BRPF1 alone or SETD5 alone with those of individuals with deletions encompassing both BRPF1 and SETD5. We conclude that both genes contribute to the phenotypic severity of 3p25 deletion syndrome but that some specific features, such as ptosis and blepharophimosis, are mostly driven by BRPF1 haploinsufficiency.

Published
2017
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18. Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Author

El Chehadeh, S., primary, Touraine, R., additional, Prieur, F., additional, Reardon, W., additional, Bienvenu, T., additional, Chantot-Bastaraud, S., additional, Doco-Fenzy, M., additional, Landais, E., additional, Philippe, C., additional, Marle, N., additional, Callier, P., additional, Mosca-Boidron, A.-L., additional, Mugneret, F., additional, Le Meur, N., additional, Goldenberg, A., additional, Guerrot, A.-M., additional, Chambon, P., additional, Satre, V., additional, Coutton, C., additional, Jouk, P.-S., additional, Devillard, F., additional, Dieterich, K., additional, Afenjar, A., additional, Burglen, L., additional, Moutard, M.-L., additional, Addor, M.-C., additional, Lebon, S., additional, Martinet, D., additional, Alessandri, J.-L., additional, Doray, B., additional, Miguet, M., additional, Devys, D., additional, Saugier-Veber, P., additional, Drunat, S., additional, Aral, B., additional, Kremer, V., additional, Rondeau, S., additional, Tabet, A.-C., additional, Thevenon, J., additional, Thauvin-Robinet, C., additional, Perreton, N., additional, Des Portes, V., additional, and Faivre, L., additional

Published
2017
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29. Wachs

Author

Buchner, G., Bohrisch, P., Richter, R., Davis, C. B., Dieterich, K., Dietze, F., Dieterich, E., Fischer, B., Hartwich, C., Hager, H., Berg, R., Benedikt, R., Mangold, K., Wichmann, A., Henriques, R., Kürschner, F., Leys, A., Smelkus, H., Rousseau, R., and Zsapski, C.

Published
1926
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35. Biochemisches Handlexikon

Author

Altenburg, H., primary, Bang, I., additional, Bartelt, K., additional, Baum, Fr., additional, Brahm, C., additional, Cramer, W., additional, Dieterich, K., additional, Ditmar, R., additional, Dohrn, M., additional, Einbeck, H., additional, Euler, H., additional, Faust, E. St., additional, Funk, C., additional, Fürth, O., additional, Gerngross, O., additional, Grafe, V., additional, Hesse, O., additional, Kautzsch, K., additional, Knoop, Fr., additional, Kobert, R., additional, Leimbach, R., additional, Lundberg, J., additional, Neubauer, O., additional, Neuberg, C., additional, Nierenstein, M., additional, Oesterle, O. A., additional, Osborne, Th. B., additional, Pincussohn, L., additional, Pringsheim, H., additional, Raske, K., additional, Reinbold, B., additional, Rewald, Br., additional, Rollett, A., additional, Rona, P., additional, Rupe, H., additional, Samuely, Fr., additional, Scheibler, H., additional, Schmid, J., additional, Schmidt, J., additional, Schmitz, E., additional, Siegfried, M., additional, Strauss, E., additional, Thiele, A., additional, Trier, G., additional, Weichardt, W., additional, Willstätter, R., additional, Windaus, A., additional, Winterstein, E., additional, Witte, E., additional, Zemplén, G., additional, and Zunz, E., additional

Published
1912
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36. Pyrrolidin. Tetrahydropyrrol, Tetramethylenimin, Pentazan

Author

Altenburg, H., primary, Bang, I., additional, Bartelt, K., additional, Baum, Fr., additional, Brahm, C., additional, Cramer, W., additional, Dieterich, K., additional, Ditmar, R., additional, Dohrn, M., additional, Einbeck, H., additional, Euler, H., additional, Faust, E. St., additional, Funk, C., additional, Fürth, O., additional, Gerngross, O., additional, Grafe, V., additional, Hesse, O., additional, Kautzsch, K., additional, Knoop, Fr., additional, Kobert, R., additional, Leimbach, R., additional, Lundberg, J., additional, Neubauer, O., additional, Neuberg, C., additional, Nierenstein, M., additional, Oesterle, O. A., additional, Osborne, Th. B., additional, Pincussohn, L., additional, Pringsheim, H., additional, Raske, K., additional, Reinbold, B., additional, Rewald, Br., additional, Rollett, A., additional, Rona, P., additional, Rupe, H., additional, Samuely, Fr., additional, Scheibler, H., additional, Schmid, J., additional, Schmidt, J., additional, Schmitz, E., additional, Siegfried, M., additional, Strauss, E., additional, Thiele, A., additional, Trier, G., additional, Weichardt, W., additional, Willstätter, R., additional, Windaus, A., additional, Winterstein, E., additional, Witte, E., additional, Zemplén, G., additional, Zunz, E., additional, and Abderhalden, Emil, additional

Published
1911
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37. Piperidin, Hexahydropyridin, Pentaméthylenimid

Author

Altenburg, H., primary, Bang, I., additional, Bartelt, K., additional, Baum, Fr., additional, Brahm, C., additional, Cramer, W., additional, Dieterich, K., additional, Ditmar, R., additional, Dohrn, M., additional, Einbeck, H., additional, Euler, H., additional, Faust, E. St., additional, Funk, C., additional, Fürth, O., additional, Gerngross, O., additional, Grafe, V., additional, Hesse, O., additional, Kautzsch, K., additional, Knoop, Fr., additional, Kobert, R., additional, Leimbach, R., additional, Lundberg, J., additional, Neubauer, O., additional, Neuberg, C., additional, Nierenstein, M., additional, Oesterle, O. A., additional, Osborne, Th. B., additional, Pincussohn, L., additional, Pringsheim, H., additional, Raske, K., additional, Reinbold, B., additional, Rewald, Br., additional, Rollett, A., additional, Rona, P., additional, Rupe, H., additional, Samuely, Fr., additional, Scheibler, H., additional, Schmid, J., additional, Schmidt, J., additional, Schmitz, E., additional, Siegfried, M., additional, Strauss, E., additional, Thiele, A., additional, Trier, G., additional, Weichardt, W., additional, Willstätter, R., additional, Windaus, A., additional, Winterstein, E., additional, Witte, E., additional, Zemplén, G., additional, Zunz, E., additional, and Abderhalden, Emil, additional

Published
1911
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39. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Author

Laquerriere, A., primary, Maluenda, J., additional, Camus, A., additional, Fontenas, L., additional, Dieterich, K., additional, Nolent, F., additional, Zhou, J., additional, Monnier, N., additional, Latour, P., additional, Gentil, D., additional, Heron, D., additional, Desguerres, I., additional, Landrieu, P., additional, Beneteau, C., additional, Delaporte, B., additional, Bellesme, C., additional, Baumann, C., additional, Capri, Y., additional, Goldenberg, A., additional, Lyonnet, S., additional, Bonneau, D., additional, Estournet, B., additional, Quijano-Roy, S., additional, Francannet, C., additional, Odent, S., additional, Saint-Frison, M.-H., additional, Sigaudy, S., additional, Figarella-Branger, D., additional, Gelot, A., additional, Mussini, J.-M., additional, Lacroix, C., additional, Drouin-Garraud, V., additional, Malinge, M.-C., additional, Attie-Bitach, T., additional, Bessieres, B., additional, Bonniere, M., additional, Encha-Razavi, F., additional, Beaufrere, A.-M., additional, Khung-Savatovsky, S., additional, Perez, M. J., additional, Vasiljevic, A., additional, Mercier, S., additional, Roume, J., additional, Trestard, L., additional, Saugier-Veber, P., additional, Cordier, M.-P., additional, Layet, V., additional, Legendre, M., additional, Vigouroux-Castera, A., additional, Lunardi, J., additional, Bayes, M., additional, Jouk, P. S., additional, Rigonnot, L., additional, Granier, M., additional, Sternberg, D., additional, Warszawski, J., additional, Gut, I., additional, Gonzales, M., additional, Tawk, M., additional, and Melki, J., additional

Published
2013
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40. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Author

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R.G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N.D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., Leeuw, N. de, Vries, L.B.A. de, Esko, T., Fernandez, B.A., Fernandez-Aranda, F., Fernandez-Real, J.M., Gratacos, M., Guilmatre, A., Hoyer, J., Jarvelin, M.R., Kooy, R.F., Kurg, A., Caignec, C. Le, Mannik, K., Platt, O.S., Sanlaville, D., Haelst, M.M. van, Villatoro Gomez, S., Walha, F., Wu, B.L., Yu, Y., Aboura, A., Addor, M.C., Alembik, Y., Antonarakis, S.E., Arveiler, B., Barth, M., Bednarek, N., Bena, F., Bergmann, S., Beri, M., Bernardini, L., Blaumeiser, B., Bonneau, D., Bottani, A., Boute, O., Brunner, H.G., Cailley, D., Callier, P., Chiesa, J., Chrast, J., Coin, L., Coutton, C., Cuisset, J.M., Cuvellier, J.C., David, A., Freminville, B. de, Delobel, B., Delrue, M.A., Demeer, B., Descamps, D., Didelot, G., Dieterich, K., Disciglio, V., Doco-Fenzy, M., Drunat, S., Duban-Bedu, B., Dubourg, C., El-Sayed Moustafa, J.S., Elliott, P., Faas, B.H.W., Faivre, L., Faudet, A., Fellmann, F., Ferrarini, A., Fisher, R., Flori, E., Forer, L., Gaillard, D., Gerard, M., Gieger, C., Gimelli, S., Gimelli, G., Grabe, H.J., Guichet, A., Guillin, O., Hartikainen, A.L., Heron, D., Hippolyte, L., Holder, M., Homuth, G., Isidor, B., Jaillard, S., Jaros, Z., Jimenez-Murcia, S., Helas, G.J., et al., Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R.G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N.D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., Leeuw, N. de, Vries, L.B.A. de, Esko, T., Fernandez, B.A., Fernandez-Aranda, F., Fernandez-Real, J.M., Gratacos, M., Guilmatre, A., Hoyer, J., Jarvelin, M.R., Kooy, R.F., Kurg, A., Caignec, C. Le, Mannik, K., Platt, O.S., Sanlaville, D., Haelst, M.M. van, Villatoro Gomez, S., Walha, F., Wu, B.L., Yu, Y., Aboura, A., Addor, M.C., Alembik, Y., Antonarakis, S.E., Arveiler, B., Barth, M., Bednarek, N., Bena, F., Bergmann, S., Beri, M., Bernardini, L., Blaumeiser, B., Bonneau, D., Bottani, A., Boute, O., Brunner, H.G., Cailley, D., Callier, P., Chiesa, J., Chrast, J., Coin, L., Coutton, C., Cuisset, J.M., Cuvellier, J.C., David, A., Freminville, B. de, Delobel, B., Delrue, M.A., Demeer, B., Descamps, D., Didelot, G., Dieterich, K., Disciglio, V., Doco-Fenzy, M., Drunat, S., Duban-Bedu, B., Dubourg, C., El-Sayed Moustafa, J.S., Elliott, P., Faas, B.H.W., Faivre, L., Faudet, A., Fellmann, F., Ferrarini, A., Fisher, R., Flori, E., Forer, L., Gaillard, D., Gerard, M., Gieger, C., Gimelli, S., Gimelli, G., Grabe, H.J., Guichet, A., Guillin, O., Hartikainen, A.L., Heron, D., Hippolyte, L., Holder, M., Homuth, G., Isidor, B., Jaillard, S., Jaros, Z., Jimenez-Murcia, S., Helas, G.J., and et al.

Abstract

Contains fulltext : 96105.pdf (publisher's version ) (Closed access), Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI)

Published
2011

43. An approximate formula for calculating the probability of failure

Author

Filippini, M., Dieterich, K., and Publica

Subjects
Streuung, fatigue strength, Gleichungssystem, probability, Versagensverhalten, equation, Fehlerrechnung, scatter, Versagenskriterium, error calculus, Wahrscheinlichkeit, Verteilung, distribution, failure criterion, Schwingfestigkeit, approximation, failure behaviour
Abstract

In an approximate simple formula the width of the scatter band, the probability of failure and the safety margin are combined. The percentage error between exact function and approximate formula is defined.

Published
1997

50. The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population

Author

Dieterich, K., primary, Zouari, R., additional, Harbuz, R., additional, Vialard, F., additional, Martinez, D., additional, Bellayou, H., additional, Prisant, N., additional, Zoghmar, A., additional, Guichaoua, M. R., additional, Koscinski, I., additional, Kharouf, M., additional, Noruzinia, M., additional, Nadifi, S., additional, Sefiani, A., additional, Lornage, J., additional, Zahi, M., additional, Viville, S., additional, Sele, B., additional, Jouk, P.-S., additional, Jacob, M.-C., additional, Escalier, D., additional, Nikas, Y., additional, Hennebicq, S., additional, Lunardi, J., additional, and Ray, P. F., additional

Published
2009
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