Megalencephaly (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Megalencephaly" in English language version.

refsWebsite

Global rank English rank

29nih.gov

4^th place

20doi.org

2^nd place

8semanticscholar.org

11^th place

8^th place

1umich.edu

459^th place

360^th place

1handle.net

102^nd place

76^th place

1seattlechildrens.org

low place

1hopkinsmedicine.org

5,712^th place

3,986^th place

doi.org

Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L (2012). "A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance". Orphanet Journal of Rare Diseases. 7: 27. doi:10.1186/1750-1172-7-27. PMC 3492204. PMID 22587682.
Striano, P; Federico (October 2012). "Mutations in mTOR pathway linked to megalencephaly syndromes". Nature Reviews Neurology. 8. 8 (10): 542–4. doi:10.1038/nrneurol.2012.178. PMID 22907262. S2CID 33405738.
Sandler, A; Knudsen; Brown; Christian (August 1997). "Neurodevelopmental dysfunction among nonreferred children with idiopathic megalencephaly". Journal of Pediatrics. 131 (2): 320–4. doi:10.1016/S0022-3476(97)70176-8. PMID 9290626.
Mirzaa, G; Riviere, Dobybns (May 2013). "Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP". American Journal of Medical Genetics Part C. 163 (2): 122–30. doi:10.1002/ajmg.c.31361. PMID 23592320. S2CID 35211056.
Ghaziuddin, M; Zaccagnini; Tsai; Elardo (August 1999). "Is Megalencephaly specific to autism?" (PDF). Journal of Intellectual Disability Research. 43 (4): 279–82. doi:10.1046/j.1365-2788.1999.00211.x. hdl:2027.42/72452. PMID 10466865.
Daymont, C; Zabel M; Feudtner C; Rubin D (January 2012). "The test characteristics of head circumference measurements for pathology associated with head enlargement: a retrospective cohort study". BMC Pediatrics. 12 (9): 9. doi:10.1186/1471-2431-12-9. PMC 3331824. PMID 22269214.
Acharya N, Reddy MS, Paulson CT, Prasanna D (January 2014). "Cranio-orbital-temporal neurofibromatosis: an uncommon subtype of neurofibromatosis type-1". Oman Journal of Ophthalmology. 7 (1): 43–5. doi:10.4103/0974-620X.127934. PMC 4008903. PMID 24799805.
Di Rocco, C; Battaglia, Pietrini; Piastra, Massimi (August 2006). "Hemimegalencephaly: clinical implications and surgical treatment". Child's Nervous System. 22 (8): 852–866. doi:10.1007/s00381-006-0149-9. PMID 16821075. S2CID 23996880.
Mirzaa, Ghayda; Conway; Gripp; Lerman-Sagie; Siegel; deVries; Lev; Kramer; Hopkins; Graham; Dobyns (February 2012). "Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis". American Journal of Medical Genetics. 158A (2): 269–91. doi:10.1002/ajmg.a.34402. PMID 22228622.
Nakamura, K; Kato; Tohyama; Shiohama; Hayasaka; Nishiyama; Kodera; Nakashima; Tsurusaki; Miyake; Matsumoto; Saitsu (June 2013). "AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH". Clinical Genetics. 85 (4): 396–398. doi:10.1111/cge.12188. PMID 23745724. S2CID 12057608.
Fam, H (December 2012). "Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications". Clinical Genetics. 82 (6): 521–2. doi:10.1111/cge.12003. PMID 22989095. S2CID 27129200.
Engelman, J (August 2009). "Targeting PI3K signalling in cancer: opportunities, challenges and limitations". Nature Reviews Cancer. 9 (8): 550–62. doi:10.1038/nrc2664. PMID 19629070. S2CID 7632764.
Riviere, J; Mirzaa; O'Roak; Beddaui; Alcantara; Conway (June 2012). "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes". Nat Genet. 44 (8): 934–40. doi:10.1038/ng.2331. PMC 3408813. PMID 22729224.
Stahl, J; Sharma; Cheung; Zimmerman; Cheng; Bosenberg; Kester; Sandirasegarane; Robertson (October 2004). "Deregulated Akt3 activity promotes development of malignant melanoma". Cancer Research. 64 (19): 7002–10. doi:10.1158/0008-5472.CAN-04-1399. PMID 15466193.
Hokkanen, S; Feldmann; Ding; Jung; Bojarski; Renner-Muller; Schuller; Kretzschmar; Wolf; Herms (February 2012). "Lack of Pur-alpha alters postnatal brain development and causes megalencephaly". Human Molecular Genetics. 21 (3): 473–84. doi:10.1093/hmg/ddr476. PMID 22010047.
Khalili, K; Del Valle; Muralidharan; Gault; Darbinian; Otte; Meier; Johnson; Daniel; Kinoshita; Amini; Gordon (October 2003). "Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse". Molecular Cell Biology. 23 (19): 6857–75. doi:10.1128/MCB.23.19.6857-6875.2003. PMC 193944. PMID 12972605.
Hengst, M; Tucke, Zerres; Blaum, Hausler (September 2010). "Megalencephaly, mega corpus callosum, and complete lack of motor development. But many with megalancephaly have normal intelligence.: Delineation of a rare syndrome". American Journal of Medical Genetics Part A. 152A (9): 2360–4. doi:10.1002/ajmg.a.33577. PMID 20803648. S2CID 205313167.
Almgren, M; Schalling, Lavebratt (November 2008). "Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab". European Journal of Pediatrics. 12 (6): 438–45. doi:10.1016/j.ejpn.2007.11.008. PMID 18242108.
Nakahashi, M; Sato, Yagishita; Ota, Saito; Sugai, Sasaki; Natsume, Tsushima; Amanuma, Endo (December 2009). "Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia". Neuroradiology. 51. 51 (12): 821–30. doi:10.1007/s00234-009-0579-7. PMID 19672585. S2CID 28924230.
Adams, Hieab H H; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha (2016). "Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature Neuroscience. 19 (12): 1569–1582. doi:10.1038/nn.4398. PMC 5227112. PMID 27694991.

handle.net

hdl.handle.net

Ghaziuddin, M; Zaccagnini; Tsai; Elardo (August 1999). "Is Megalencephaly specific to autism?" (PDF). Journal of Intellectual Disability Research. 43 (4): 279–82. doi:10.1046/j.1365-2788.1999.00211.x. hdl:2027.42/72452. PMID 10466865.

hopkinsmedicine.org

Johns Hopkins Medicine, Neurology and Neurosurgery. "Hemimegalencephaly".

nih.gov

pubmed.ncbi.nlm.nih.gov

Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L (2012). "A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance". Orphanet Journal of Rare Diseases. 7: 27. doi:10.1186/1750-1172-7-27. PMC 3492204. PMID 22587682.
Striano, P; Federico (October 2012). "Mutations in mTOR pathway linked to megalencephaly syndromes". Nature Reviews Neurology. 8. 8 (10): 542–4. doi:10.1038/nrneurol.2012.178. PMID 22907262. S2CID 33405738.
Sandler, A; Knudsen; Brown; Christian (August 1997). "Neurodevelopmental dysfunction among nonreferred children with idiopathic megalencephaly". Journal of Pediatrics. 131 (2): 320–4. doi:10.1016/S0022-3476(97)70176-8. PMID 9290626.
Mirzaa, G; Riviere, Dobybns (May 2013). "Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP". American Journal of Medical Genetics Part C. 163 (2): 122–30. doi:10.1002/ajmg.c.31361. PMID 23592320. S2CID 35211056.
Ghaziuddin, M; Zaccagnini; Tsai; Elardo (August 1999). "Is Megalencephaly specific to autism?" (PDF). Journal of Intellectual Disability Research. 43 (4): 279–82. doi:10.1046/j.1365-2788.1999.00211.x. hdl:2027.42/72452. PMID 10466865.
Daymont, C; Zabel M; Feudtner C; Rubin D (January 2012). "The test characteristics of head circumference measurements for pathology associated with head enlargement: a retrospective cohort study". BMC Pediatrics. 12 (9): 9. doi:10.1186/1471-2431-12-9. PMC 3331824. PMID 22269214.
Acharya N, Reddy MS, Paulson CT, Prasanna D (January 2014). "Cranio-orbital-temporal neurofibromatosis: an uncommon subtype of neurofibromatosis type-1". Oman Journal of Ophthalmology. 7 (1): 43–5. doi:10.4103/0974-620X.127934. PMC 4008903. PMID 24799805.
Di Rocco, C; Battaglia, Pietrini; Piastra, Massimi (August 2006). "Hemimegalencephaly: clinical implications and surgical treatment". Child's Nervous System. 22 (8): 852–866. doi:10.1007/s00381-006-0149-9. PMID 16821075. S2CID 23996880.
Mirzaa, Ghayda; Conway; Gripp; Lerman-Sagie; Siegel; deVries; Lev; Kramer; Hopkins; Graham; Dobyns (February 2012). "Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis". American Journal of Medical Genetics. 158A (2): 269–91. doi:10.1002/ajmg.a.34402. PMID 22228622.
Nakamura, K; Kato; Tohyama; Shiohama; Hayasaka; Nishiyama; Kodera; Nakashima; Tsurusaki; Miyake; Matsumoto; Saitsu (June 2013). "AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH". Clinical Genetics. 85 (4): 396–398. doi:10.1111/cge.12188. PMID 23745724. S2CID 12057608.
Fam, H (December 2012). "Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications". Clinical Genetics. 82 (6): 521–2. doi:10.1111/cge.12003. PMID 22989095. S2CID 27129200.
Engelman, J (August 2009). "Targeting PI3K signalling in cancer: opportunities, challenges and limitations". Nature Reviews Cancer. 9 (8): 550–62. doi:10.1038/nrc2664. PMID 19629070. S2CID 7632764.
Riviere, J; Mirzaa; O'Roak; Beddaui; Alcantara; Conway (June 2012). "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes". Nat Genet. 44 (8): 934–40. doi:10.1038/ng.2331. PMC 3408813. PMID 22729224.
Stahl, J; Sharma; Cheung; Zimmerman; Cheng; Bosenberg; Kester; Sandirasegarane; Robertson (October 2004). "Deregulated Akt3 activity promotes development of malignant melanoma". Cancer Research. 64 (19): 7002–10. doi:10.1158/0008-5472.CAN-04-1399. PMID 15466193.
Hokkanen, S; Feldmann; Ding; Jung; Bojarski; Renner-Muller; Schuller; Kretzschmar; Wolf; Herms (February 2012). "Lack of Pur-alpha alters postnatal brain development and causes megalencephaly". Human Molecular Genetics. 21 (3): 473–84. doi:10.1093/hmg/ddr476. PMID 22010047.
Khalili, K; Del Valle; Muralidharan; Gault; Darbinian; Otte; Meier; Johnson; Daniel; Kinoshita; Amini; Gordon (October 2003). "Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse". Molecular Cell Biology. 23 (19): 6857–75. doi:10.1128/MCB.23.19.6857-6875.2003. PMC 193944. PMID 12972605.
Hengst, M; Tucke, Zerres; Blaum, Hausler (September 2010). "Megalencephaly, mega corpus callosum, and complete lack of motor development. But many with megalancephaly have normal intelligence.: Delineation of a rare syndrome". American Journal of Medical Genetics Part A. 152A (9): 2360–4. doi:10.1002/ajmg.a.33577. PMID 20803648. S2CID 205313167.
Almgren, M; Schalling, Lavebratt (November 2008). "Idiopathic megalencephaly-possible cause and treatment opportunities: from patient to lab". European Journal of Pediatrics. 12 (6): 438–45. doi:10.1016/j.ejpn.2007.11.008. PMID 18242108.
Nakahashi, M; Sato, Yagishita; Ota, Saito; Sugai, Sasaki; Natsume, Tsushima; Amanuma, Endo (December 2009). "Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia". Neuroradiology. 51. 51 (12): 821–30. doi:10.1007/s00234-009-0579-7. PMID 19672585. S2CID 28924230.
Adams, Hieab H H; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha (2016). "Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature Neuroscience. 19 (12): 1569–1582. doi:10.1038/nn.4398. PMC 5227112. PMID 27694991.

ncbi.nlm.nih.gov

Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L (2012). "A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance". Orphanet Journal of Rare Diseases. 7: 27. doi:10.1186/1750-1172-7-27. PMC 3492204. PMID 22587682.
Daymont, C; Zabel M; Feudtner C; Rubin D (January 2012). "The test characteristics of head circumference measurements for pathology associated with head enlargement: a retrospective cohort study". BMC Pediatrics. 12 (9): 9. doi:10.1186/1471-2431-12-9. PMC 3331824. PMID 22269214.
Acharya N, Reddy MS, Paulson CT, Prasanna D (January 2014). "Cranio-orbital-temporal neurofibromatosis: an uncommon subtype of neurofibromatosis type-1". Oman Journal of Ophthalmology. 7 (1): 43–5. doi:10.4103/0974-620X.127934. PMC 4008903. PMID 24799805.
"Megalencephaly (Concept Id: C0221355)". www.ncbi.nlm.nih.gov. Retrieved 2023-11-05.
Riviere, J; Mirzaa; O'Roak; Beddaui; Alcantara; Conway (June 2012). "De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes". Nat Genet. 44 (8): 934–40. doi:10.1038/ng.2331. PMC 3408813. PMID 22729224.
Khalili, K; Del Valle; Muralidharan; Gault; Darbinian; Otte; Meier; Johnson; Daniel; Kinoshita; Amini; Gordon (October 2003). "Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse". Molecular Cell Biology. 23 (19): 6857–75. doi:10.1128/MCB.23.19.6857-6875.2003. PMC 193944. PMID 12972605.
Adams, Hieab H H; Hibar, Derrek P; Chouraki, Vincent; Stein, Jason L; Nyquist, Paul A; Rentería, Miguel E; Trompet, Stella; Arias-Vasquez, Alejandro; Seshadri, Sudha (2016). "Novel genetic loci underlying human intracranial volume identified through genome-wide association". Nature Neuroscience. 19 (12): 1569–1582. doi:10.1038/nn.4398. PMC 5227112. PMID 27694991.

openi.nlm.nih.gov

Ali BR, Silhavy JL, Akawi NA, Gleeson JG, Al-Gazali L (2012). "A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance". Orphanet Journal of Rare Diseases. 7: 27. doi:10.1186/1750-1172-7-27. PMC 3492204. PMID 22587682.

ninds.nih.gov

National Institute of Neurological Disorders and Stroke. "Megalencephaly Information Page". National Institute of Health. Retrieved January 2, 2019.

seattlechildrens.org

Interview with Dr. Ghayda Mirzaa (October 1st, 2013)

semanticscholar.org

api.semanticscholar.org

Striano, P; Federico (October 2012). "Mutations in mTOR pathway linked to megalencephaly syndromes". Nature Reviews Neurology. 8. 8 (10): 542–4. doi:10.1038/nrneurol.2012.178. PMID 22907262. S2CID 33405738.
Mirzaa, G; Riviere, Dobybns (May 2013). "Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP". American Journal of Medical Genetics Part C. 163 (2): 122–30. doi:10.1002/ajmg.c.31361. PMID 23592320. S2CID 35211056.
Di Rocco, C; Battaglia, Pietrini; Piastra, Massimi (August 2006). "Hemimegalencephaly: clinical implications and surgical treatment". Child's Nervous System. 22 (8): 852–866. doi:10.1007/s00381-006-0149-9. PMID 16821075. S2CID 23996880.
Nakamura, K; Kato; Tohyama; Shiohama; Hayasaka; Nishiyama; Kodera; Nakashima; Tsurusaki; Miyake; Matsumoto; Saitsu (June 2013). "AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH". Clinical Genetics. 85 (4): 396–398. doi:10.1111/cge.12188. PMID 23745724. S2CID 12057608.
Fam, H (December 2012). "Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications". Clinical Genetics. 82 (6): 521–2. doi:10.1111/cge.12003. PMID 22989095. S2CID 27129200.
Engelman, J (August 2009). "Targeting PI3K signalling in cancer: opportunities, challenges and limitations". Nature Reviews Cancer. 9 (8): 550–62. doi:10.1038/nrc2664. PMID 19629070. S2CID 7632764.
Hengst, M; Tucke, Zerres; Blaum, Hausler (September 2010). "Megalencephaly, mega corpus callosum, and complete lack of motor development. But many with megalancephaly have normal intelligence.: Delineation of a rare syndrome". American Journal of Medical Genetics Part A. 152A (9): 2360–4. doi:10.1002/ajmg.a.33577. PMID 20803648. S2CID 205313167.
Nakahashi, M; Sato, Yagishita; Ota, Saito; Sugai, Sasaki; Natsume, Tsushima; Amanuma, Endo (December 2009). "Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia". Neuroradiology. 51. 51 (12): 821–30. doi:10.1007/s00234-009-0579-7. PMID 19672585. S2CID 28924230.

umich.edu

deepblue.lib.umich.edu

Ghaziuddin, M; Zaccagnini; Tsai; Elardo (August 1999). "Is Megalencephaly specific to autism?" (PDF). Journal of Intellectual Disability Research. 43 (4): 279–82. doi:10.1046/j.1365-2788.1999.00211.x. hdl:2027.42/72452. PMID 10466865.