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Results by year

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

Year Number of Results
1963 3
1964 3
1965 3
1966 2
1967 7
1968 2
1969 5
1970 7
1971 5
1972 3
1973 7
1974 7
1975 5
1976 5
1977 10
1978 9
1979 5
1980 4
1981 8
1982 10
1983 15
1984 10
1985 10
1986 9
1987 16
1988 29
1989 36
1990 46
1991 46
1992 54
1993 72
1994 62
1995 52
1996 68
1997 75
1998 74
1999 74
2000 82
2001 64
2002 72
2003 95
2004 117
2005 94
2006 122
2007 141
2008 146
2009 126
2010 147
2011 184
2012 170
2013 184
2014 211
2015 192
2016 174
2017 208
2018 175
2019 202
2020 190
2021 200
2022 186
2023 176
2024 70

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Search Results

4,067 results

Results by year

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Page 1
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congeni
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made i …
Angelman Syndrome.
Margolis SS, Sell GL, Zbinden MA, Bird LM. Margolis SS, et al. Neurotherapeutics. 2015 Jul;12(3):641-50. doi: 10.1007/s13311-015-0361-y. Neurotherapeutics. 2015. PMID: 26040994 Free PMC article. Review.
AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquiti …
AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity …
Neurodegenerative Cerebellar Ataxia.
Rosenthal LS. Rosenthal LS. Continuum (Minneap Minn). 2022 Oct 1;28(5):1409-1434. doi: 10.1212/CON.0000000000001180. Continuum (Minneap Minn). 2022. PMID: 36222772 Review.
PURPOSE OF REVIEW: Neurodegenerative cerebellar ataxia is a diverse collection of diseases that are unified by gait and balance abnormalities, appendicular incoordination, and abnormalities of eye movement and speech. ...SUMMARY: Neurodegenerative cerebellar …
PURPOSE OF REVIEW: Neurodegenerative cerebellar ataxia is a diverse collection of diseases that are unified by gait and balance abnormali
Cleft lip and/or palate: review.
Farronato G, Cannalire P, Martinelli G, Tubertini I, Giannini L, Galbiati G, Maspero C. Farronato G, et al. Minerva Stomatol. 2014 Apr;63(4):111-26. Minerva Stomatol. 2014. PMID: 24705041 Review. English, Italian.
RESULTS: According to these data, the CL/P are the most common congenital malformations of the craniofacial region. There are different phenotypes and clinical features of this malformation, which differ according to the anatomical structures involved: cleft lip, cleft lip …
RESULTS: According to these data, the CL/P are the most common congenital malformations of the craniofacial region. There are differe …
Cleft lip and palate.
Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Mossey PA, et al. Lancet. 2009 Nov 21;374(9703):1773-85. doi: 10.1016/S0140-6736(09)60695-4. Epub 2009 Sep 9. Lancet. 2009. PMID: 19747722 Review.
These defects arise in about 1.7 per 1000 liveborn babies, with ethnic and geographic variation. Effects on speech, hearing, appearance, and psychology can lead to longlasting adverse outcomes for health and social integration. ...
These defects arise in about 1.7 per 1000 liveborn babies, with ethnic and geographic variation. Effects on speech, hearing, appearan …
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E. Goldmuntz E. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. Am J Med Genet C Semin Med Genet. 2020. PMID: 32049433 Review.
The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recurrent infections, neurodevelopmental and psychiatric disorders, and congenital
The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding …
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by developmental delay, cognitive impairment, motor dysfunction, seizures, gastrointestinal concerns, and abnormal electroencephalographic bac …
BACKGROUND: Angelman syndrome (AS) is a rare neurogenetic disorder present in approximately 1/12,000 individuals and characterized by develo …
Orofacial Clefts: Genetics of Cleft Lip and Palate.
Babai A, Irving M. Babai A, et al. Genes (Basel). 2023 Aug 9;14(8):1603. doi: 10.3390/genes14081603. Genes (Basel). 2023. PMID: 37628654 Free PMC article. Review.
Orofacial clefts lead to significant physiological difficulties that affect feeding, speech and language development and other developmental aspects, which results in an increased social and financial burden on the affected individuals and their families. ...
Orofacial clefts lead to significant physiological difficulties that affect feeding, speech and language development and other develo …
Angelman syndrome - insights into a rare neurogenetic disorder.
Buiting K, Williams C, Horsthemke B. Buiting K, et al. Nat Rev Neurol. 2016 Oct;12(10):584-93. doi: 10.1038/nrneurol.2016.133. Epub 2016 Sep 12. Nat Rev Neurol. 2016. PMID: 27615419 Review.
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hype …
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairme …
4,067 results