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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1968 2
1969 3
1970 4
1971 3
1972 4
1973 6
1974 7
1975 4
1976 4
1977 5
1978 5
1979 6
1980 5
1981 9
1982 2
1983 2
1984 4
1985 6
1986 4
1987 5
1988 2
1989 7
1990 8
1991 6
1992 6
1993 14
1994 11
1995 17
1996 15
1997 15
1998 18
1999 24
2000 18
2001 13
2002 22
2003 18
2004 14
2005 20
2006 24
2007 29
2008 32
2009 26
2010 31
2011 46
2012 36
2013 62
2014 78
2015 52
2016 50
2017 37
2018 46
2019 50
2020 51
2021 48
2022 34
2023 25
2024 15

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997 results

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Quoted phrase not found in phrase index: "Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
Page 1
Risk factors for Down syndrome.
Coppedè F. Coppedè F. Arch Toxicol. 2016 Dec;90(12):2917-2929. doi: 10.1007/s00204-016-1843-3. Epub 2016 Sep 7. Arch Toxicol. 2016. PMID: 27600794 Review.
Down syndrome (DS) originates, in most of the cases (95 %), from a full trisomy of chromosome 21. ...This article critically reviews the hypotheses and the risk factors which have been suggested to contribute to the birth of a child with DS, including folate metabolism, di …
Down syndrome (DS) originates, in most of the cases (95 %), from a full trisomy of chromosome 21. ...This article critically reviews …
GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.
Deal CL, Tony M, Höybye C, Allen DB, Tauber M, Christiansen JS; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants. Deal CL, et al. J Clin Endocrinol Metab. 2013 Jun;98(6):E1072-87. doi: 10.1210/jc.2012-3888. Epub 2013 Mar 29. J Clin Endocrinol Metab. 2013. PMID: 23543664 Free PMC article. Review.
OBJECTIVE: The aim of the study was to formulate recommendations for the use of rhGH in children and adult patients with PWS. EVIDENCE: We performed a systematic review of the clinical evidence in the pediatric population, including randomized controlled trials, com …
OBJECTIVE: The aim of the study was to formulate recommendations for the use of rhGH in children and adult patients with PWS. EVIDENCE: We p …
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net. Rose NC, et al. Genet Med. 2022 Jul;24(7):1379-1391. doi: 10.1016/j.gim.2022.03.019. Epub 2022 May 24. Genet Med. 2022. PMID: 35608568 Free article. Review.
PURPOSE: Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinical validity and technical performance in high-risk populations. ...Random-effects meta-analyses were used to calculate pooled est …
PURPOSE: Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated into prenatal care. Prior studies examined clinic …
Cell-free DNA analysis for noninvasive examination of trisomy.
Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H, Tomlinson MW, Pereira L, Spitz JL, Hollemon D, Cuckle H, Musci TJ, Wapner RJ. Norton ME, et al. N Engl J Med. 2015 Apr 23;372(17):1589-97. doi: 10.1056/NEJMoa1407349. Epub 2015 Apr 1. N Engl J Med. 2015. PMID: 25830321 Free article. Clinical Trial.
Participants received the results of standard screening; the results of cfDNA testing were blinded. Determination of the birth outcome was based on diagnostic genetic testing or newborn examination. The primary outcome was the area under the receiver-operating-characterist …
Participants received the results of standard screening; the results of cfDNA testing were blinded. Determination of the birth outcome was b …
Dietary Modulation of Gut Microbiota Contributes to Alleviation of Both Genetic and Simple Obesity in Children.
Zhang C, Yin A, Li H, Wang R, Wu G, Shen J, Zhang M, Wang L, Hou Y, Ouyang H, Zhang Y, Zheng Y, Wang J, Lv X, Wang Y, Zhang F, Zeng B, Li W, Yan F, Zhao Y, Pang X, Zhang X, Fu H, Chen F, Zhao N, Hamaker BR, Bridgewater LC, Weinkove D, Clement K, Dore J, Holmes E, Xiao H, Zhao G, Yang S, Bork P, Nicholson JK, Wei H, Tang H, Zhang X, Zhao L. Zhang C, et al. EBioMedicine. 2015 Jul 10;2(8):968-84. doi: 10.1016/j.ebiom.2015.07.007. eCollection 2015 Aug. EBioMedicine. 2015. PMID: 26425705 Free PMC article. Clinical Trial.
Gut microbiota has been implicated as a pivotal contributing factor in diet-related obesity; however, its role in development of disease phenotypes in human genetic obesity such as Prader-Willi syndrome (PWS) remains elusive. ...Lack of understanding of the molecula …
Gut microbiota has been implicated as a pivotal contributing factor in diet-related obesity; however, its role in development of disease phe …
Rescuing Over-activated Microglia Restores Cognitive Performance in Juvenile Animals of the Dp(16) Mouse Model of Down Syndrome.
Pinto B, Morelli G, Rastogi M, Savardi A, Fumagalli A, Petretto A, Bartolucci M, Varea E, Catelani T, Contestabile A, Perlini LE, Cancedda L. Pinto B, et al. Neuron. 2020 Dec 9;108(5):887-904.e12. doi: 10.1016/j.neuron.2020.09.010. Epub 2020 Oct 6. Neuron. 2020. PMID: 33027640 Free PMC article.
Microglia are brain-resident immune cells and regulate mechanisms essential for cognitive functions. Down syndrome (DS), the most frequent cause of genetic intellectual disability, is caused by a supernumerary chromosome 21, containing also genes relat …
Microglia are brain-resident immune cells and regulate mechanisms essential for cognitive functions. Down syndrome (DS), the most fre …
Psychopathological disorders in Prader-Willi syndrome.
Guinovart M, Coronas R, Caixàs A. Guinovart M, et al. Endocrinol Diabetes Nutr (Engl Ed). 2019 Nov;66(9):579-587. doi: 10.1016/j.endinu.2019.03.004. Epub 2019 Apr 18. Endocrinol Diabetes Nutr (Engl Ed). 2019. PMID: 31006652 Review. English, Spanish.
Prader-Willi syndrome is a genetic disorder caused by chromosomal changes in segment 15q11-q13 including cognitive, mental, and behavioral symptoms, as well as a specific physical phenotype. Both the most common psychopathological changes (intellectual dis …
Prader-Willi syndrome is a genetic disorder caused by chromosomal changes in segment 15q11-q13 including cognitive, mental, an …
Cystathionine-β-Synthase: Molecular Regulation and Pharmacological Inhibition.
Zuhra K, Augsburger F, Majtan T, Szabo C. Zuhra K, et al. Biomolecules. 2020 Apr 30;10(5):697. doi: 10.3390/biom10050697. Biomolecules. 2020. PMID: 32365821 Free PMC article. Review.
Its biochemical functions under physiological conditions include the metabolism of homocysteine (a cytotoxic molecule and cardiovascular risk factor) and the generation of hydrogen sulfide (H(2)S), a gaseous biological mediator with multiple regulatory roles in the vascula …
Its biochemical functions under physiological conditions include the metabolism of homocysteine (a cytotoxic molecule and cardiovascular ris …
Prader-Willi syndrome.
Cassidy SB, Driscoll DJ. Cassidy SB, et al. Eur J Hum Genet. 2009 Jan;17(1):3-13. doi: 10.1038/ejhg.2008.165. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781185 Free PMC article.
Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental retardation, hypogonadism, growth hormon …
Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent …
Epilepsy in KCNH1-related syndromes.
Mastrangelo M, Scheffer IE, Bramswig NC, Nair LD, Myers CT, Dentici ML, Korenke GC, Schoch K, Campeau PM, White SM, Shashi V, Kansagra S, Van Essen AJ, Leuzzi V. Mastrangelo M, et al. Epileptic Disord. 2016 Jun 1;18(2):123-36. doi: 10.1684/epd.2016.0830. Epileptic Disord. 2016. PMID: 27267311
KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes incl …
KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as pat …
997 results