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Year Number of Results
1934 1
1945 1
1948 1
1951 1
1953 1
1961 1
1963 1
1964 1
1965 1
1966 2
1968 2
1969 9
1970 8
1971 8
1972 8
1973 15
1974 11
1975 24
1976 19
1977 21
1978 23
1979 22
1980 79
1981 139
1982 134
1983 153
1984 174
1985 185
1986 187
1987 200
1988 199
1989 254
1990 244
1991 278
1992 234
1993 278
1994 322
1995 332
1996 328
1997 357
1998 402
1999 364
2000 412
2001 377
2002 399
2003 393
2004 435
2005 453
2006 458
2007 461
2008 565
2009 555
2010 624
2011 597
2012 660
2013 719
2014 753
2015 773
2016 775
2017 775
2018 748
2019 771
2020 832
2021 818
2022 767
2023 744
2024 293

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18,470 results

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Page 1
Molecular genetics of 22q11.2 deletion syndrome.
Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Morrow BE, et al. Am J Med Genet A. 2018 Oct;176(10):2070-2081. doi: 10.1002/ajmg.a.40504. Am J Med Genet A. 2018. PMID: 30380194 Free PMC article. Review.
The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals of this review is to summarize the current state of basic research studies of 22q11.2DS. It highlights efforts …
The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangem …
The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders.
Houten SM, Violante S, Ventura FV, Wanders RJ. Houten SM, et al. Annu Rev Physiol. 2016;78:23-44. doi: 10.1146/annurev-physiol-021115-105045. Epub 2015 Oct 14. Annu Rev Physiol. 2016. PMID: 26474213 Review.
Fatty acids are a crucial energy source in the postabsorptive and fasted states when glucose supply is limiting. But even when glucose is abundantly available, FAO is a main energy source for the heart, skeletal muscle, and kidney. A series of enzymes, transporters, and ot …
Fatty acids are a crucial energy source in the postabsorptive and fasted states when glucose supply is limiting. But even when glucos …
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H. Sloan-Heggen CM, et al. J Med Genet. 2015 Dec;52(12):823-9. doi: 10.1136/jmedgenet-2015-103389. Epub 2015 Oct 7. J Med Genet. 2015. PMID: 26445815 Free PMC article.
BACKGROUND: Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implica …
BACKGROUND: Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited ge …
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. Plaisancié J, et al. Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. Clin Genet. 2018. PMID: 29136273 Review.
In this work, we describe 8 individuals presenting with an MA phenotype. Among them, 7 are carrying biallelic recessive FOXE3 mutations and 2 of these have novel mutations: p.(Ala78Thr) and p.(Arg104Cys). The last of our patients is carrying in the heterozygous state …
In this work, we describe 8 individuals presenting with an MA phenotype. Among them, 7 are carrying biallelic recessive FOXE3 mutatio …
Recessive resistance to plant viruses.
Truniger V, Aranda MA. Truniger V, et al. Adv Virus Res. 2009;75:119-59. doi: 10.1016/S0065-3527(09)07504-6. Epub 2010 Jan 13. Adv Virus Res. 2009. PMID: 20109665 Review.
This, together with other supporting data, suggests that more extensive characterization of the natural variability of resistance genes may identify new host factors conferring recessive resistance. In this chapter, we discuss the recent work carried out to characterize lo …
This, together with other supporting data, suggests that more extensive characterization of the natural variability of resistance genes may …
[Autosomal recessive cerebellar ataxias].
Anheim M. Anheim M. Rev Neurol (Paris). 2011 May;167(5):372-84. doi: 10.1016/j.neurol.2010.07.021. Epub 2010 Nov 17. Rev Neurol (Paris). 2011. PMID: 21087783 Review. French.
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous and complex inherited neurodegenerative diseases that may affect the cerebellum and/or the spinocerebellar tract, the posterior column of the spinal cord and the peripheral nerves. Cerebellar ata …
INTRODUCTION: Autosomal recessive cerebellar ataxias (ARCA) are heterogeneous and complex inherited neurodegenerative diseases that m …
A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns.
Zhou J, Zhang B, Zeb A, Ma A, Chen J, Zhao D, Rahim F, Khan R, Zhang H, Zhang Y, Khan I, Kakakhel MBS, Khan A, Shah W, Jiang X, Zhang F, Yang X, Xiao J, Xu B, Ma H, Shi Q. Zhou J, et al. Clin Genet. 2023 Nov;104(5):564-570. doi: 10.1111/cge.14383. Epub 2023 Jun 7. Clin Genet. 2023. PMID: 37286336
Here, through genetic analysis of three Pakistani families having eight infertile men with normal parameters in routine semen analysis, we identified a novel ACTL7A variant (c.149_150del, p.E50Afs*6), recessively co-segregating with infertility in these three families. ...
Here, through genetic analysis of three Pakistani families having eight infertile men with normal parameters in routine semen analysis, we i …
Bloom's syndrome.
German J. German J. Dermatol Clin. 1995 Jan;13(1):7-18. Dermatol Clin. 1995. PMID: 7712653 Review.
Bloom's syndrome is a rare autosomal recessively transmitted disorder, the main clinical feature of which is small body size. ...
Bloom's syndrome is a rare autosomal recessively transmitted disorder, the main clinical feature of which is small body size. ...
Axonal Charcot-Marie-Tooth disease.
Shy ME, Patzkó A. Shy ME, et al. Curr Opin Neurol. 2011 Oct;24(5):475-83. doi: 10.1097/WCO.0b013e32834aa331. Curr Opin Neurol. 2011. PMID: 21892080 Review.
PURPOSE OF REVIEW: The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Tooth disease (CMT) and review the biological basis for these disorders. ...
PURPOSE OF REVIEW: The aim is to specify the genetic causes of dominantly and recessively inherited axonal forms of Charcot-Marie-Too …
Clinical consequences of heterozygosity for autosomal-recessive diseases.
Vogel F. Vogel F. Clin Genet. 1984 May;25(5):381-415. Clin Genet. 1984. PMID: 6373070 Review.
Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. ...--especially in the lower range--and personality characteristics coul …
Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are norm …
18,470 results
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