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

Year Number of Results
1975 1
1978 1
1981 1
1982 1
1987 1
1988 2
1989 2
1990 1
1991 1
1992 1
1994 1
1995 2
1996 4
1997 3
1999 5
2000 2
2002 1
2003 1
2004 3
2005 1
2007 1
2008 2
2009 3
2010 1
2011 11
2012 9
2013 18
2014 16
2015 14
2016 17
2017 16
2018 15
2019 16
2020 21
2021 9
2022 13
2023 15
2024 6

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202 results

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Page 1
Further delineation of Malan syndrome.
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC. Priolo M, et al. Hum Mutat. 2018 Sep;39(9):1226-1237. doi: 10.1002/humu.23563. Epub 2018 Jun 25. Hum Mutat. 2018. PMID: 29897170 Free PMC article.
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG. Keppler-Noreuil KM, et al. Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31. Am J Med Genet A. 2015. PMID: 25557259 Free PMC article.
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO), Hemihyperplasia Multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal …
Historically, the clinical diagnoses in patients with PIK3CA activating mutations have included Fibroadipose hyperplasia or Overgrowth (FAO) …
47,XYY syndrome: clinical phenotype and timing of ascertainment.
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL. Bardsley MZ, et al. J Pediatr. 2013 Oct;163(4):1085-94. doi: 10.1016/j.jpeds.2013.05.037. Epub 2013 Jun 27. J Pediatr. 2013. PMID: 23810129 Free PMC article.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. O'Roak BJ, et al. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15. Science. 2012. PMID: 23160955 Free PMC article.
Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.
Alamar M, Candela S, Flor-Goikoetxea A, Salvador H, Martinez-Monseny AF, Muchart J, Hinojosa J. Alamar M, et al. Childs Nerv Syst. 2021 Aug;37(8):2441-2449. doi: 10.1007/s00381-021-05222-8. Epub 2021 May 28. Childs Nerv Syst. 2021. PMID: 34047857 Review.
PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in order to assess the optimal treatment for the associated hydrocephalus. ...
PURPOSE: We describe our series of 4 patients with megalencephaly-capillary malformation syndrome (MCAP) and review the literature in …
Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.
Mirzaa GM, Poduri A. Mirzaa GM, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):156-72. doi: 10.1002/ajmg.c.31401. Epub 2014 May 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 24888963 Review.
Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that occurs due to either increased number or size of neurons and glial cells. ...
Megalencephaly (MEG) is a developmental disorder characterized by brain overgrowth that occurs due to either increased number or size …
Introduction: Brain malformations.
Mirzaa GM, Paciorkowski AR. Mirzaa GM, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):117-23. doi: 10.1002/ajmg.c.31404. Epub 2014 May 22. Am J Med Genet C Semin Med Genet. 2014. PMID: 24853778
This is best exemplified by the recent identification of mutations within components of the PI3K-AKT-mTOR pathway in hemimegalencephaly and megalencephaly syndromes, and the rapidly increased identification of mutations within the tubulin family in a broad range of cortica …
This is best exemplified by the recent identification of mutations within components of the PI3K-AKT-mTOR pathway in hemimegalencephaly and …
Variants in PTEN Are Associated With a Diverse Spectrum of Cortical Dysplasia.
Shelkowitz E, Stence NV, Neuberger I, Park KL, Saenz MS, Pao E, Oyama N, Friedman SD, Shaw DWW, Mirzaa GM. Shelkowitz E, et al. Pediatr Neurol. 2023 Oct;147:154-162. doi: 10.1016/j.pediatrneurol.2023.06.015. Epub 2023 Jun 22. Pediatr Neurol. 2023. PMID: 37619436
BACKGROUND: Inactivating mutations in PTEN are among the most common causes of megalencephaly. Activating mutations in other nodes of the PI3K/AKT/MTOR signaling pathway are recognized as a frequent cause of cortical brain malformations. ...Germline testing for PTEN mutati …
BACKGROUND: Inactivating mutations in PTEN are among the most common causes of megalencephaly. Activating mutations in other nodes of …
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.
Pavone P, Praticò AD, Rizzo R, Corsello G, Ruggieri M, Parano E, Falsaperla R. Pavone P, et al. Medicine (Baltimore). 2017 Jun;96(26):e6814. doi: 10.1097/MD.0000000000006814. Medicine (Baltimore). 2017. PMID: 28658095 Free PMC article. Review.
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. ...In this article, we seek to underline the clinical aspect of megalencephaly, emphasizing the main disorders that manifest with this ano …
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. ...In …
202 results