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Outcome of the routine assessment of patients with mental retardation in a genetics clinic.

American journal of medical genetics

Hunter AG.
PMID: 10602119
Am J Med Genet. 2000 Jan 03;90(1):60-8. doi: 10.1002/(sici)1096-8628(20000103)90:1<60::aid-ajmg11>3.0.co;2-p.

This study reviewed hospital and genetics clinic records of 411 patients evaluated in our department from 1986 to 1997 inclusive. Major objectives were to establish how often and under what circumstances a specific genetic/syndrome diagnosis was made and to...

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Hunter AG. Outcome of the routine assessment of patients with mental retardation in a genetics clinic. Am J Med Genet. 2000;90(1):60-8doi: 10.1002/(sici)1096-8628(20000103)90:1<60::aid-ajmg11>3.0.co;2-p.
Hunter, A. G. (2000). Outcome of the routine assessment of patients with mental retardation in a genetics clinic. American journal of medical genetics, 90(1), 60-8. https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<60::aid-ajmg11>3.0.co;2-p
Hunter, A G. "Outcome of the routine assessment of patients with mental retardation in a genetics clinic." American journal of medical genetics vol. 90,1 (2000): 60-8. doi: https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<60::aid-ajmg11>3.0.co;2-p
Hunter AG. Outcome of the routine assessment of patients with mental retardation in a genetics clinic. Am J Med Genet. 2000 Jan 03;90(1):60-8. doi: 10.1002/(sici)1096-8628(20000103)90:1<60::aid-ajmg11>3.0.co;2-p. PMID: 10602119.
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[Heredity and social equilibrium].

Nederlands tijdschrift voor de psychologie en haar grensgebieden

VAN DEN BUSSCHE HK.
PMID: 13407786
Ned Tijdschr Psychol. 1956;11(6):469-521.

No abstract available.

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VAN DEN BUSSCHE HK. Erfelijkheid en sociaal evenwicht. [Heredity and social equilibrium]. Ned Tijdschr Psychol. 1956;11(6):469-521
VAN DEN BUSSCHE, H. K. (1956). Erfelijkheid en sociaal evenwicht. [Heredity and social equilibrium]. Nederlands tijdschrift voor de psychologie en haar grensgebieden, 11(6), 469-521.
VAN DEN BUSSCHE, H K. "Erfelijkheid en sociaal evenwicht." [Heredity and social equilibrium]. Nederlands tijdschrift voor de psychologie en haar grensgebieden vol. 11,6 (1956): 469-521.
VAN DEN BUSSCHE HK. Erfelijkheid en sociaal evenwicht. [Heredity and social equilibrium]. Ned Tijdschr Psychol. 1956;11(6):469-521. Dutch. PMID: 13407786.
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[The use of neuropsychology in genealogical observations of extreme mental retardation (author's transl)].

Ceskoslovenska psychiatrie

Glezerman TB, Frank V.
PMID: 852054
Cesk Psychiatr. 1977 Feb;73(1):46-9.

No abstract available.

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Glezerman TB, Frank V. Pouzitie neuropsychológie v genealogických sledovaniach hranicnej dusevnej zaostalosti. Predbezné zdelenie [The use of neuropsychology in genealogical observations of extreme mental retardation (author's transl)]. Cesk Psychiatr. 1977;73(1):46-9
Glezerman, T. B., & Frank, V. (1977). Pouzitie neuropsychológie v genealogických sledovaniach hranicnej dusevnej zaostalosti. Predbezné zdelenie [The use of neuropsychology in genealogical observations of extreme mental retardation (author's transl)]. Ceskoslovenska psychiatrie, 73(1), 46-9.
Glezerman, T B, and Frank, V. "Pouzitie neuropsychológie v genealogických sledovaniach hranicnej dusevnej zaostalosti. Predbezné zdelenie" [The use of neuropsychology in genealogical observations of extreme mental retardation (author's transl)]. Ceskoslovenska psychiatrie vol. 73,1 (1977): 46-9.
Glezerman TB, Frank V. Pouzitie neuropsychológie v genealogických sledovaniach hranicnej dusevnej zaostalosti. Predbezné zdelenie [The use of neuropsychology in genealogical observations of extreme mental retardation (author's transl)]. Cesk Psychiatr. 1977 Feb;73(1):46-9. Slovak. PMID: 852054.
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[The mentally retarded. Viewpoint of a geneticist].

Revue medicale de Liege

Dodinval P.
PMID: 1224095
Rev Med Liege. 1975 Mar 01;30(5):164-71.

No abstract available.

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Dodinval P. Les retards mentaux. Point de vue du généticien [The mentally retarded. Viewpoint of a geneticist]. Rev Med Liege. 1975;30(5):164-71
Dodinval, P. (1975). Les retards mentaux. Point de vue du généticien [The mentally retarded. Viewpoint of a geneticist]. Revue medicale de Liege, 30(5), 164-71.
Dodinval, P. "Les retards mentaux. Point de vue du généticien" [The mentally retarded. Viewpoint of a geneticist]. Revue medicale de Liege vol. 30,5 (1975): 164-71.
Dodinval P. Les retards mentaux. Point de vue du généticien [The mentally retarded. Viewpoint of a geneticist]. Rev Med Liege. 1975 Mar 01;30(5):164-71. French. PMID: 1224095.
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[On the dominance of social and familial factors in some aspects and grades of mental deficiency. Importance of an exact criterion for differential diagnosis and for rehabilitation purposes].

Rassegna di neuropsichiatria e scienze affini

Faila E, Garzillo F.
PMID: 5999682
Rass Neuropsichiatr. 1966 Jul-Sep;20(3):331-40.

No abstract available.

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Faila E, Garzillo F. Sulia dominanza dei fattori socio-familiari in taluni aspetti e gradi dell'insufficienza mentale. Importanza di un esatto criterio diagnostico-differenziale, anche ai fini recuperativi. [On the dominance of social and familial factors in some aspects and grades of mental deficiency. Importance of an exact criterion for differential diagnosis and for rehabilitation purposes]. Rass Neuropsichiatr. 1966;20(3):331-40
Faila, E., & Garzillo, F. (1966). Sulia dominanza dei fattori socio-familiari in taluni aspetti e gradi dell'insufficienza mentale. Importanza di un esatto criterio diagnostico-differenziale, anche ai fini recuperativi. [On the dominance of social and familial factors in some aspects and grades of mental deficiency. Importance of an exact criterion for differential diagnosis and for rehabilitation purposes]. Rassegna di neuropsichiatria e scienze affini, 20(3), 331-40.
Faila, E, and Garzillo, F. "Sulia dominanza dei fattori socio-familiari in taluni aspetti e gradi dell'insufficienza mentale. Importanza di un esatto criterio diagnostico-differenziale, anche ai fini recuperativi." [On the dominance of social and familial factors in some aspects and grades of mental deficiency. Importance of an exact criterion for differential diagnosis and for rehabilitation purposes]. Rassegna di neuropsichiatria e scienze affini vol. 20,3 (1966): 331-40.
Faila E, Garzillo F. Sulia dominanza dei fattori socio-familiari in taluni aspetti e gradi dell'insufficienza mentale. Importanza di un esatto criterio diagnostico-differenziale, anche ai fini recuperativi. [On the dominance of social and familial factors in some aspects and grades of mental deficiency. Importance of an exact criterion for differential diagnosis and for rehabilitation purposes]. Rass Neuropsichiatr. 1966 Jul-Sep;20(3):331-40. Italian. PMID: 5999682.
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Some observations on the problem of heredity and environment in mental retardation.

Proceedings of the annual meeting of the American Psychopathological Association

Jervis GA.
PMID: 5630764
Proc Annu Meet Am Psychopathol Assoc. 1967;56:262-9.

No abstract available.

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Jervis GA. Some observations on the problem of heredity and environment in mental retardation. Proc Annu Meet Am Psychopathol Assoc. 1967;56:262-9
Jervis, G. A. (1967). Some observations on the problem of heredity and environment in mental retardation. Proceedings of the annual meeting of the American Psychopathological Association, 56262-9.
Jervis, G A. "Some observations on the problem of heredity and environment in mental retardation." Proceedings of the annual meeting of the American Psychopathological Association vol. 56 (1967): 262-9.
Jervis GA. Some observations on the problem of heredity and environment in mental retardation. Proc Annu Meet Am Psychopathol Assoc. 1967;56:262-9. PMID: 5630764.
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Gene networks associated with non-syndromic intellectual disability.

Journal of neurogenetics

Lee S, Rudd S, Gratten J, Visscher PM, Prins JB, Dawson PA.
PMID: 29199528
J Neurogenet. 2018 Mar;32(1):6-14. doi: 10.1080/01677063.2017.1404058. Epub 2017 Dec 04.

Non-syndromic intellectual disability (NS-ID) is a genetically heterogeneous disorder, with more than 200 candidate genes to date. Despite the increasing number of novel mutations detected, a relatively low number of recurrently mutated genes have been identified, highlighting the complex...

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Lee S, Rudd S, Gratten J, et al. Gene networks associated with non-syndromic intellectual disability. J Neurogenet. 2017;32(1):6-14doi: 10.1080/01677063.2017.1404058.
Lee, S., Rudd, S., Gratten, J., Visscher, P. M., Prins, J. B., & Dawson, P. A. (2018). Gene networks associated with non-syndromic intellectual disability. Journal of neurogenetics, 32(1), 6-14. https://doi.org/10.1080/01677063.2017.1404058
Lee, Soohyun, et al. "Gene networks associated with non-syndromic intellectual disability." Journal of neurogenetics vol. 32,1 (2018): 6-14. doi: https://doi.org/10.1080/01677063.2017.1404058
Lee S, Rudd S, Gratten J, Visscher PM, Prins JB, Dawson PA. Gene networks associated with non-syndromic intellectual disability. J Neurogenet. 2018 Mar;32(1):6-14. doi: 10.1080/01677063.2017.1404058. Epub 2017 Dec 04. PMID: 29199528.
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From genetous ailments to genetic disorders: Ireland's On Idiocy and Imbecility Revisited.

Developmental medicine and child neurology

Dan B, Abramowicz MJ.
PMID: 15344525
Dev Med Child Neurol. 2004 Sep;46(9):646-7. doi: 10.1017/s0012162204211070.

No abstract available.

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Dan B, Abramowicz MJ. From genetous ailments to genetic disorders: Ireland's On Idiocy and Imbecility Revisited. Dev Med Child Neurol. 2004;46(9):646-7doi: 10.1017/s0012162204211070.
Dan, B., & Abramowicz, M. J. (2004). From genetous ailments to genetic disorders: Ireland's On Idiocy and Imbecility Revisited. Developmental medicine and child neurology, 46(9), 646-7. https://doi.org/10.1017/s0012162204211070
Dan, Bernard, and Abramowicz, Marc J. "From genetous ailments to genetic disorders: Ireland's On Idiocy and Imbecility Revisited." Developmental medicine and child neurology vol. 46,9 (2004): 646-7. doi: https://doi.org/10.1017/s0012162204211070
Dan B, Abramowicz MJ. From genetous ailments to genetic disorders: Ireland's On Idiocy and Imbecility Revisited. Dev Med Child Neurol. 2004 Sep;46(9):646-7. doi: 10.1017/s0012162204211070. PMID: 15344525.
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Application of array-based comparative genome hybridization in children with developmental delay or mental retardation.

Pediatrics and neonatology

Liang JS, Shimojima K, Yamamoto T.
PMID: 19166117
Pediatr Neonatol. 2008 Dec;49(6):213-7. doi: 10.1016/S1875-9572(09)60013-9.

Children with developmental delay or mental retardation (DD/MR) are commonly encountered in child neurology clinics, and establishing an etiologic diagnosis is a challenge for child neurologists. Among the etiologies, chromosomal imbalance is one of the most important causes. However,...

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Liang JS, Shimojima K, Yamamoto T. Application of array-based comparative genome hybridization in children with developmental delay or mental retardation. Pediatr Neonatol. 2008;49(6):213-7doi: 10.1016/S1875-9572(09)60013-9.
Liang, J. S., Shimojima, K., & Yamamoto, T. (2008). Application of array-based comparative genome hybridization in children with developmental delay or mental retardation. Pediatrics and neonatology, 49(6), 213-7. https://doi.org/10.1016/S1875-9572(09)60013-9
Liang, Jao-Shwann, et al. "Application of array-based comparative genome hybridization in children with developmental delay or mental retardation." Pediatrics and neonatology vol. 49,6 (2008): 213-7. doi: https://doi.org/10.1016/S1875-9572(09)60013-9
Liang JS, Shimojima K, Yamamoto T. Application of array-based comparative genome hybridization in children with developmental delay or mental retardation. Pediatr Neonatol. 2008 Dec;49(6):213-7. doi: 10.1016/S1875-9572(09)60013-9. PMID: 19166117.
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Array-CGH: importance in the study of developmental delays in pediatrics.

Revista de neurologia

Pinheiro MI, Silva C, Lourenço L, Gonçalves D, Dória S, Guardiano M, Leão M.
PMID: 32729108
Rev Neurol. 2020 Sep 01;71(5):171-176. doi: 10.33588/rn.7105.2020211.

INTRODUCTION: Global developmental delay (GDD) is an intellectual and adaptive impairment in infants under 5 years of age who fail to meet expected developmental milestones. Intellectual disability is characterized by limitation in intellectual function and adaptive behavior, with onset...

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Pinheiro MI, Silva C, Lourenço L, et al. Relevancia de los arrays de hibridación genómica comparada en el estudio de los retrasos del desarrollo en pediatría. Array-CGH: importance in the study of developmental delays in pediatrics. Rev Neurol. 2020;71(5):171-176doi: 10.33588/rn.7105.2020211.
Pinheiro, M. I., Silva, C., Lourenço, L., Gonçalves, D., Dória, S., Guardiano, M., & Leão, M. (2020). Relevancia de los arrays de hibridación genómica comparada en el estudio de los retrasos del desarrollo en pediatría. Array-CGH: importance in the study of developmental delays in pediatrics. Revista de neurologia, 71(5), 171-176. https://doi.org/10.33588/rn.7105.2020211
Pinheiro, M I, et al. "Relevancia de los arrays de hibridación genómica comparada en el estudio de los retrasos del desarrollo en pediatría." Array-CGH: importance in the study of developmental delays in pediatrics. Revista de neurologia vol. 71,5 (2020): 171-176. doi: https://doi.org/10.33588/rn.7105.2020211
Pinheiro MI, Silva C, Lourenço L, Gonçalves D, Dória S, Guardiano M, Leão M. Relevancia de los arrays de hibridación genómica comparada en el estudio de los retrasos del desarrollo en pediatría. Array-CGH: importance in the study of developmental delays in pediatrics. Rev Neurol. 2020 Sep 01;71(5):171-176. doi: 10.33588/rn.7105.2020211. Spanish. PMID: 32729108.
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Genetic Counseling in Neurodevelopmental Disorders.

Cold Spring Harbor perspectives in medicine

Blesson A, Cohen JS.
PMID: 31501260
Cold Spring Harb Perspect Med. 2020 Apr 01;10(4). doi: 10.1101/cshperspect.a036533.

Neurodevelopmental disorders (NDDs), including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD), represent a continuum of developmental brain dysfunction. Although the etiology of NDD is heterogeneous, genetic variation represents the largest contribution, strongly supporting the...

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Blesson A, Cohen JS. Genetic Counseling in Neurodevelopmental Disorders. Cold Spring Harb Perspect Med. 2020;10(4)doi: 10.1101/cshperspect.a036533.
Blesson, A., & Cohen, J. S. (2020). Genetic Counseling in Neurodevelopmental Disorders. Cold Spring Harbor perspectives in medicine, 10(4), . https://doi.org/10.1101/cshperspect.a036533
Blesson, Alyssa, and Cohen, Julie S. "Genetic Counseling in Neurodevelopmental Disorders." Cold Spring Harbor perspectives in medicine vol. 10,4 (2020). doi: https://doi.org/10.1101/cshperspect.a036533
Blesson A, Cohen JS. Genetic Counseling in Neurodevelopmental Disorders. Cold Spring Harb Perspect Med. 2020 Apr 01;10(4). doi: 10.1101/cshperspect.a036533. PMID: 31501260; PMCID: PMC7117955.
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R3HDM1 haploinsufficiency is associated with mild intellectual disability.

American journal of medical genetics. Part A

Fukushi D, Inaba M, Katoh K, Suzuki Y, Enokido Y, Nomura N, Tokita Y, Hayashi S, Mizuno S, Yamada K, Wakamatsu N.
PMID: 33750005
Am J Med Genet A. 2021 Jun;185(6):1776-1786. doi: 10.1002/ajmg.a.62173. Epub 2021 Mar 22.

R3HDM1 (R3H domain containing 1) is an uncharacterized RNA-binding protein that is highly expressed in the human cerebral cortex. We report the first case of a 12-year-old Japanese male with haploinsufficiency of R3HDM1. He presented with mild intellectual disability...

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Fukushi D, Inaba M, Katoh K, et al. R3HDM1 haploinsufficiency is associated with mild intellectual disability. Am J Med Genet A. 2021;185(6):1776-1786doi: 10.1002/ajmg.a.62173.
Fukushi, D., Inaba, M., Katoh, K., Suzuki, Y., Enokido, Y., Nomura, N., Tokita, Y., Hayashi, S., Mizuno, S., Yamada, K., & Wakamatsu, N. (2021). R3HDM1 haploinsufficiency is associated with mild intellectual disability. American journal of medical genetics. Part A, 185(6), 1776-1786. https://doi.org/10.1002/ajmg.a.62173
Fukushi, Daisuke, et al. "R3HDM1 haploinsufficiency is associated with mild intellectual disability." American journal of medical genetics. Part A vol. 185,6 (2021): 1776-1786. doi: https://doi.org/10.1002/ajmg.a.62173
Fukushi D, Inaba M, Katoh K, Suzuki Y, Enokido Y, Nomura N, Tokita Y, Hayashi S, Mizuno S, Yamada K, Wakamatsu N. R3HDM1 haploinsufficiency is associated with mild intellectual disability. Am J Med Genet A. 2021 Jun;185(6):1776-1786. doi: 10.1002/ajmg.a.62173. Epub 2021 Mar 22. PMID: 33750005.
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Showing 13 to 24 of 61 entries