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Intellectual disability genomics: current state, pitfalls and future challenges.

BMC genomics

Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer APM, Jorge P.
PMID: 34930158
BMC Genomics. 2021 Dec 20;22(1):909. doi: 10.1186/s12864-021-08227-4.

Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance...

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Maia N, Nabais Sá MJ, Melo-Pires M, et al. Intellectual disability genomics: current state, pitfalls and future challenges. BMC Genomics. 2021;22(1):909doi: 10.1186/s12864-021-08227-4.
Maia, N., Nabais Sá, M. J., Melo-Pires, M., de Brouwer, A. P. M., & Jorge, P. (2021). Intellectual disability genomics: current state, pitfalls and future challenges. BMC genomics, 22(1), 909. https://doi.org/10.1186/s12864-021-08227-4
Maia, Nuno, et al. "Intellectual disability genomics: current state, pitfalls and future challenges." BMC genomics vol. 22,1 (2021): 909. doi: https://doi.org/10.1186/s12864-021-08227-4
Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer APM, Jorge P. Intellectual disability genomics: current state, pitfalls and future challenges. BMC Genomics. 2021 Dec 20;22(1):909. doi: 10.1186/s12864-021-08227-4. PMID: 34930158; PMCID: PMC8686650.
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[The significance of genetics for cerebral anomalies in children].

Wiener medizinische Wochenschrift (1946)

LENZ W.
PMID: 13760886
Wien Med Wochenschr. 1960 Dec 17;110:1004-12.

No abstract available.

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LENZ W. [The significance of genetics for cerebral anomalies in children]. Wien Med Wochenschr. 1960;110:1004-12
LENZ, W. (1960). [The significance of genetics for cerebral anomalies in children]. Wiener medizinische Wochenschrift (1946), 1101004-12.
LENZ, W. "[The significance of genetics for cerebral anomalies in children]." Wiener medizinische Wochenschrift (1946) vol. 110 (1960): 1004-12.
LENZ W. [The significance of genetics for cerebral anomalies in children]. Wien Med Wochenschr. 1960 Dec 17;110:1004-12. German. PMID: 13760886.
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Keeping in step.

American journal of mental deficiency

ENGBERG EJ.
PMID: 14923687
Am J Ment Defic. 1952 Apr;56(4):771-4.

No abstract available.

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ENGBERG EJ. Keeping in step. Am J Ment Defic. 1952;56(4):771-4
ENGBERG, E. J. (1952). Keeping in step. American journal of mental deficiency, 56(4), 771-4.
ENGBERG, E J. "Keeping in step." American journal of mental deficiency vol. 56,4 (1952): 771-4.
ENGBERG EJ. Keeping in step. Am J Ment Defic. 1952 Apr;56(4):771-4. PMID: 14923687.
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Human heredity and mental deficiency.

American journal of mental deficiency

HALPERIN SL.
PMID: 20297149
Am J Ment Defic. 1946 Oct;51(2):153-63.

No abstract available.

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HALPERIN SL. Human heredity and mental deficiency. Am J Ment Defic. 1946;51(2):153-63
HALPERIN, S. L. (1946). Human heredity and mental deficiency. American journal of mental deficiency, 51(2), 153-63.
HALPERIN, S L. "Human heredity and mental deficiency." American journal of mental deficiency vol. 51,2 (1946): 153-63.
HALPERIN SL. Human heredity and mental deficiency. Am J Ment Defic. 1946 Oct;51(2):153-63. PMID: 20297149.
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[Pharmacological treatment of mental retardation].

Revista de neurologia

Artigas-Pallarés J.
PMID: 16506124
Rev Neurol. 2006 Jan 07;42:S109-15.

INTRODUCTION: Mental retardation (MR) is defined by the simultaneous appearance of a low intellectual level and an inability to adapt to the demands of the surroundings, beginning either in childhood or during adolescence. Although it is to expected that...

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Artigas-Pallarés J. Tratamiento farmacólogico del retraso mental. [Pharmacological treatment of mental retardation]. Rev Neurol. 2006;42:S109-15
Artigas-Pallarés, J. (2006). Tratamiento farmacólogico del retraso mental. [Pharmacological treatment of mental retardation]. Revista de neurologia, 42S109-15.
Artigas-Pallarés, J. "Tratamiento farmacólogico del retraso mental." [Pharmacological treatment of mental retardation]. Revista de neurologia vol. 42 (2006): S109-15.
Artigas-Pallarés J. Tratamiento farmacólogico del retraso mental. [Pharmacological treatment of mental retardation]. Rev Neurol. 2006 Jan 07;42:S109-15. Spanish. PMID: 16506124.
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Families with two or more mentally defective sibs. II. Biochemical studies.

American journal of diseases of children (1960)

WRIGHT SW, SHAW KN, ROTH P, TRAUB J, JOHNSON A.
PMID: 13786825
Am J Dis Child. 1961 Sep;102:302-7. doi: 10.1001/archpedi.1961.02080010304004.

No abstract available.

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WRIGHT SW, SHAW KN, ROTH P, et al. Families with two or more mentally defective sibs. II. Biochemical studies. Am J Dis Child. 1961;102:302-7doi: 10.1001/archpedi.1961.02080010304004.
WRIGHT, S. W., SHAW, K. N., ROTH, P., TRAUB, J., & JOHNSON, A. (1961). Families with two or more mentally defective sibs. II. Biochemical studies. American journal of diseases of children (1960), 102302-7. https://doi.org/10.1001/archpedi.1961.02080010304004
WRIGHT, S W, et al. "Families with two or more mentally defective sibs. II. Biochemical studies." American journal of diseases of children (1960) vol. 102 (1961): 302-7. doi: https://doi.org/10.1001/archpedi.1961.02080010304004
WRIGHT SW, SHAW KN, ROTH P, TRAUB J, JOHNSON A. Families with two or more mentally defective sibs. II. Biochemical studies. Am J Dis Child. 1961 Sep;102:302-7. doi: 10.1001/archpedi.1961.02080010304004. PMID: 13786825.
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Impacts of genomics on the health and social costs of intellectual disability.

Journal of medical genetics

Doble B, Schofield D, Evans CA, Groza T, Mattick JS, Field M, Roscioli T.
PMID: 31980565
J Med Genet. 2020 Jul;57(7):479-486. doi: 10.1136/jmedgenet-2019-106445. Epub 2020 Jan 24.

BACKGROUND: This study provides an integrated assessment of the economic and social impacts of genomic sequencing for the detection of monogenic disorders resulting in intellectual disability (ID).METHODS: Multiple knowledge bases were cross-referenced and analysed to compile a reference list...

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Doble B, Schofield D, Evans CA, et al. Impacts of genomics on the health and social costs of intellectual disability. J Med Genet. 2020;57(7):479-486doi: 10.1136/jmedgenet-2019-106445.
Doble, B., Schofield, D., Evans, C. A., Groza, T., Mattick, J. S., Field, M., & Roscioli, T. (2020). Impacts of genomics on the health and social costs of intellectual disability. Journal of medical genetics, 57(7), 479-486. https://doi.org/10.1136/jmedgenet-2019-106445
Doble, Brett, et al. "Impacts of genomics on the health and social costs of intellectual disability." Journal of medical genetics vol. 57,7 (2020): 479-486. doi: https://doi.org/10.1136/jmedgenet-2019-106445
Doble B, Schofield D, Evans CA, Groza T, Mattick JS, Field M, Roscioli T. Impacts of genomics on the health and social costs of intellectual disability. J Med Genet. 2020 Jul;57(7):479-486. doi: 10.1136/jmedgenet-2019-106445. Epub 2020 Jan 24. PMID: 31980565.
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[Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

Hu J, Qian Y, Sun Y, Yu J, Luo Y, Dong M.
PMID: 31901047
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Jun 25;48(4):420-428.

OBJECTIVE: To assess the clinical application of single nucleotide polymorphism microarray (SNP array) in patients with intellectual disability/developmental delay(ID/DD).METHODS: SNP array was performed to detect genome-wide DNA copy number variants (CNVs) for 145 patients with ID/DD in Women's Hospital,...

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Hu J, Qian Y, Sun Y, et al. [Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation]. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019;48(4):420-428
Hu, J., Qian, Y., Sun, Y., Yu, J., Luo, Y., & Dong, M. (2019). [Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation]. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences, 48(4), 420-428.
Hu, Junjie, et al. "[Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation]." Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences vol. 48,4 (2019): 420-428.
Hu J, Qian Y, Sun Y, Yu J, Luo Y, Dong M. [Application of single nucleotide polymorphism microarray in clinical diagnosis of intellectual disability or retardation]. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Jun 25;48(4):420-428. Chinese. PMID: 31901047.
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[Genetic disease as the cause of mental retardation. I. Familial mental retardation].

Ugeskrift for laeger

Brodum Nielsen K, Wamberg E.
PMID: 906104
Ugeskr Laeger. 1977 Aug 01;139(31):1875-8.

No abstract available.

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Brodum Nielsen K, Wamberg E. Genetiske sygdomme som årsag til mental retardering. I. Familiaert optraedende mental retardering. [Genetic disease as the cause of mental retardation. I. Familial mental retardation]. Ugeskr Laeger. 1977;139(31):1875-8
Brodum Nielsen, K., & Wamberg, E. (1977). Genetiske sygdomme som årsag til mental retardering. I. Familiaert optraedende mental retardering. [Genetic disease as the cause of mental retardation. I. Familial mental retardation]. Ugeskrift for laeger, 139(31), 1875-8.
Brodum Nielsen, K, and Wamberg, E. "Genetiske sygdomme som årsag til mental retardering. I. Familiaert optraedende mental retardering." [Genetic disease as the cause of mental retardation. I. Familial mental retardation]. Ugeskrift for laeger vol. 139,31 (1977): 1875-8.
Brodum Nielsen K, Wamberg E. Genetiske sygdomme som årsag til mental retardering. I. Familiaert optraedende mental retardering. [Genetic disease as the cause of mental retardation. I. Familial mental retardation]. Ugeskr Laeger. 1977 Aug 01;139(31):1875-8. Danish. PMID: 906104.
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[Mental retardation and genetics].

Kangogaku zasshi

Inoue E.
PMID: 4210944
Kangogaku Zasshi. 1974 Jun;38(6):672-5.

No abstract available.

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Inoue E. [Mental retardation and genetics]. Kangogaku Zasshi. 1974;38(6):672-5
Inoue, E. (1974). [Mental retardation and genetics]. Kangogaku zasshi, 38(6), 672-5.
Inoue, E. "[Mental retardation and genetics]." Kangogaku zasshi vol. 38,6 (1974): 672-5.
Inoue E. [Mental retardation and genetics]. Kangogaku Zasshi. 1974 Jun;38(6):672-5. Japanese. PMID: 4210944.
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[Contribution to the study of heredity of mental deficiency].

Rassegna di studi psichiatrici

CROSATO F, SIGNORATO U.
PMID: 13696583
Rass Studi Psichiatr. 1961 May-Jun;50:237-62.

No abstract available.

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CROSATO F, SIGNORATO U. [Contribution to the study of heredity of mental deficiency]. Rass Studi Psichiatr. 1961;50:237-62
CROSATO, F., & SIGNORATO, U. (1961). [Contribution to the study of heredity of mental deficiency]. Rassegna di studi psichiatrici, 50237-62.
CROSATO, F, and SIGNORATO, U. "[Contribution to the study of heredity of mental deficiency]." Rassegna di studi psichiatrici vol. 50 (1961): 237-62.
CROSATO F, SIGNORATO U. [Contribution to the study of heredity of mental deficiency]. Rass Studi Psichiatr. 1961 May-Jun;50:237-62. Italian. PMID: 13696583.
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Patterns of discovery in the genetics of mental deficiency.

Diseases of the nervous system

ALLEN G.
PMID: 13561913
Dis Nerv Syst. 1958 Jul;19(7):31-8; discussion 38-9.

No abstract available.

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ALLEN G. Patterns of discovery in the genetics of mental deficiency. Dis Nerv Syst. 1958;19(7):31-8; discussion 38-9
ALLEN, G. (1958). Patterns of discovery in the genetics of mental deficiency. Diseases of the nervous system, 19(7), 31-8; discussion 38-9.
ALLEN, G. "Patterns of discovery in the genetics of mental deficiency." Diseases of the nervous system vol. 19,7 (1958): 31-8; discussion 38-9.
ALLEN G. Patterns of discovery in the genetics of mental deficiency. Dis Nerv Syst. 1958 Jul;19(7):31-8; discussion 38-9. PMID: 13561913.
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Showing 25 to 36 of 61 entries