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

Year Number of Results
1954 1
1960 1
1964 2
1972 1
1975 1
1977 1
1978 3
1980 2
1981 3
1983 1
1985 1
1986 2
1988 4
1989 3
1990 4
1991 4
1992 1
1993 2
1994 3
1995 1
1996 5
1997 2
1998 9
1999 8
2000 5
2001 1
2002 4
2003 3
2004 3
2005 1
2006 3
2007 2
2008 6
2009 6
2010 13
2011 16
2012 19
2013 30
2014 37
2015 31
2016 20
2017 30
2018 36
2019 27
2020 28
2021 28
2022 34
2023 24
2024 8

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412 results

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Page 1
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) …
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.
Imaging of Macrocephaly.
Neuberger I, Stence NV, Maloney JA, White CJ, Mirsky DM. Neuberger I, et al. Clin Perinatol. 2022 Sep;49(3):715-734. doi: 10.1016/j.clp.2022.05.006. Clin Perinatol. 2022. PMID: 36113931 Review.
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.
Neurocutaneous vascular syndromes.
Puttgen KB, Lin DD. Puttgen KB, et al. Childs Nerv Syst. 2010 Oct;26(10):1407-15. doi: 10.1007/s00381-010-1201-3. Epub 2010 Jun 27. Childs Nerv Syst. 2010. PMID: 20582592 Review.
Megalencephaly and Macrocephaly.
Winden KD, Yuskaitis CJ, Poduri A. Winden KD, et al. Semin Neurol. 2015 Jun;35(3):277-87. doi: 10.1055/s-0035-1552622. Epub 2015 Jun 10. Semin Neurol. 2015. PMID: 26060907
Megalencephaly is a developmental disorder characterized by brain overgrowth secondary to increased size and/or numbers of neurons and glia. ...
Megalencephaly is a developmental disorder characterized by brain overgrowth secondary to increased size and/or numbers of neurons an …
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
From microcephaly to megalencephaly: determinants of brain size.
Pirozzi F, Nelson B, Mirzaa G. Pirozzi F, et al. Dialogues Clin Neurosci. 2018 Dec;20(4):267-282. doi: 10.31887/DCNS.2018.20.4/gmirzaa. Dialogues Clin Neurosci. 2018. PMID: 30936767 Free PMC article. Review.
Thorough review of the genetic literature reveals that human microcephaly and megalencephaly are caused by mutations of a rapidly growing number of genes linked within critical cellular pathways that impact early brain development, with important pathomechanistic links to …
Thorough review of the genetic literature reveals that human microcephaly and megalencephaly are caused by mutations of a rapidly gro …
Macrocephaly: Solving the Diagnostic Dilemma.
Tan AP, Mankad K, Gonçalves FG, Talenti G, Alexia E. Tan AP, et al. Top Magn Reson Imaging. 2018 Aug;27(4):197-217. doi: 10.1097/RMR.0000000000000170. Top Magn Reson Imaging. 2018. PMID: 30086108 Review.
It is defined as an abnormally large head with an occipitofrontal circumference greater than 2 standard deviations above the mean for a given age and sex. Megalencephaly refers exclusively to brain overgrowth exceeding twice the standard deviation. Macrocephaly can be isol …
It is defined as an abnormally large head with an occipitofrontal circumference greater than 2 standard deviations above the mean for a give …
412 results