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

Year Number of Results
1964 1
1969 2
1972 1
1975 1
1977 1
1979 1
1981 1
1982 1
1983 1
1984 2
1985 2
1986 2
1988 1
1989 1
1990 2
1991 3
1992 1
1993 5
1994 2
1995 2
1996 3
1997 3
1998 2
1999 6
2000 8
2001 4
2002 4
2003 5
2004 2
2005 6
2006 7
2007 4
2008 4
2009 3
2010 6
2011 6
2012 7
2013 7
2014 4
2015 11
2016 8
2017 4
2018 9
2019 2
2020 9
2021 4
2022 9
2023 5
2024 2

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171 results

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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 …
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made i …
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. ...
The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rea …
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 heart d …
The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gas …
Rickets, Vitamin D, and Ca/P Metabolism.
Miller WL, Imel EA. Miller WL, et al. Horm Res Paediatr. 2022;95(6):579-592. doi: 10.1159/000527011. Epub 2022 Nov 29. Horm Res Paediatr. 2022. PMID: 36446330 Free article. Review.
Collip (of insulin fame) identified PTH by its ability to correct tetany in parathyroidectomized dogs, but only in the 1970s was it clear that only a small fragment of PTH conveyed its activity. Congenital hypoparathyroidism with immune defects was described in 1968 …
Collip (of insulin fame) identified PTH by its ability to correct tetany in parathyroidectomized dogs, but only in the 1970s was it clear th …
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Cirillo A, Lioncino M, Maratea A, Passariello A, Fusco A, Fratta F, Monda E, Caiazza M, Signore G, Esposito A, Baban A, Versacci P, Putotto C, Marino B, Pignata C, Cirillo E, Giardino G, Sarubbi B, Limongelli G, Russo MG. Cirillo A, et al. Heart Fail Clin. 2022 Jan;18(1):155-164. doi: 10.1016/j.hfc.2021.07.009. Epub 2021 Oct 25. Heart Fail Clin. 2022. PMID: 34776076 Review.
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Mustillo PJ, et al. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. J Clin Immunol. 2023. PMID: 36648576 Free PMC article. Review.
Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach.
Szczawińska-Popłonyk A, Schwartzmann E, Chmara Z, Głukowska A, Krysa T, Majchrzycki M, Olejnicki M, Ostrowska P, Babik J. Szczawińska-Popłonyk A, et al. Int J Mol Sci. 2023 May 5;24(9):8317. doi: 10.3390/ijms24098317. Int J Mol Sci. 2023. PMID: 37176024 Free PMC article. Review.
The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects-most frequently conotrunc …
The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis …
Cardiac Neural Crest.
Yamagishi H. Yamagishi H. Cold Spring Harb Perspect Biol. 2021 Jan 4;13(1):a036715. doi: 10.1101/cshperspect.a036715. Cold Spring Harb Perspect Biol. 2021. PMID: 32071091 Free PMC article. Review.
Recent studies focus more on reciprocal signaling between the CNC and cells originated from the second heart field (SHF), which are essential for the development of the OFT myocardium, providing new insights into the molecular mechanisms underlying congenital heart disease …
Recent studies focus more on reciprocal signaling between the CNC and cells originated from the second heart field (SHF), which are essentia …
Hypoparathyroidism.
Al-Azem H, Khan AA. Al-Azem H, et al. Best Pract Res Clin Endocrinol Metab. 2012 Aug;26(4):517-22. doi: 10.1016/j.beem.2012.01.004. Epub 2012 May 31. Best Pract Res Clin Endocrinol Metab. 2012. PMID: 22863393 Review.
Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia and low or inappropriately normal levels of parathyroid hormone (PTH). ...Hypoparathyroidism may be due to congenital or acquired disorders. Causes include autoimmune diseases, genetic abn …
Hypoparathyroidism is characterized by hypocalcemia, hyperphosphatemia and low or inappropriately normal levels of parathyroid hormon …
171 results