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Did you mean: acrocephaly (1332 items)

Select item 87959811.

Diagnostic Approach to Macrocephaly in Children

Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Federico Zara, Pasquale Striano, Domenico Tortora, Mariasavina Severino, Valeria Capra

Front Pediatr. 2021; 9: 794069. Published online 2022 Jan 14. doi: 10.3389/fped.2021.794069

PMCID:: PMC8795981

Article PDF–7.1M

Select item 55000172.

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment

Piero Pavone, Andrea Domenico Praticò, Renata Rizzo, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Raffaele Falsaperla

Medicine (Baltimore) 2017 Jun; 96(26): e6814. Published online 2017 Jun 30. doi: 10.1097/MD.0000000000006814

PMCID:: PMC5500017

Article PDF–327K

Select item 64369523.

From microcephaly to megalencephaly: determinants of brain size

Filomena Pirozzi, Branden Nelson, Ghayda Mirzaa

Dialogues Clin Neurosci. 2018 Dec; 20(4): 267–282. doi: 10.31887/DCNS.2018.20.4/gmirzaa

PMCID:: PMC6436952

Article PDF–3.0M

Select item 97784244.

Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes

Giovanna Civitate Bastos, Giovanna Cantini Tolezano, Ana Cristina Victorino Krepischi

Genes (Basel) 2022 Dec; 13(12): 2285. Published online 2022 Dec 4. doi: 10.3390/genes13122285

PMCID:: PMC9778424

Article PDF–1.4M

Select item 79999015.

Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation

Ritsuko Kimata Pooh, Megumi Machida, Issei Imoto, Eri Noel Arai, Hiroyasu Ohashi, Masayoshi Takeda, Osamu Shimokawa, Kaori Fukuta, Arihiro Shiozaki, Shigeru Saito, Hideaki Chiyo

Genes (Basel) 2021 Mar; 12(3): 358. Published online 2021 Mar 2. doi: 10.3390/genes12030358

PMCID:: PMC7999901

Article PDF–3.6M

Select item 60804236.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Diana Alcantara, Andrew E Timms, Karen Gripp, Laura Baker, Kaylee Park, Sarah Collins, Chi Cheng, Fiona Stewart, Sarju G Mehta, Anand Saggar, László Sztriha, Melinda Zombor, Oana Caluseriu, Ronit Mesterman, Margot I Van Allen, Adeline Jacquinet, Sofia Ygberg, Jonathan A Bernstein, Aaron M Wenger, Harendra Guturu, Gill Bejerano, Natalia Gomez-Ospina, Anna Lehman, Enrico Alfei, Chiara Pantaleoni, Valerio Conti, Renzo Guerrini, Ute Moog, John M Graham Jr., Robert Hevner, William B Dobyns, Mark O’Driscoll, Ghayda M Mirzaa

Brain. 2017 Oct; 140(10): 2610–2622. Published online 2017 Sep 7. doi: 10.1093/brain/awx203

PMCID:: PMC6080423

Article PDF–907K

Select item 74184247.

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

Hyun Jin Park, Chang Ho Shin, Won Joon Yoo, Tae-Joon Cho, Man Jin Kim, Moon-Woo Seong, Sung Sup Park, Jeong Ho Lee, Nam Suk Sim, Jung Min Ko

Orphanet J Rare Dis. 2020; 15: 205. Published online 2020 Aug 10. doi: 10.1186/s13023-020-01480-y

PMCID:: PMC7418424

Article PDF–2.6M

Select item 52371728.

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh

BMC Med Genet. 2017; 18: 4. Published online 2017 Jan 13. doi: 10.1186/s12881-016-0363-6

PMCID:: PMC5237172

Article PDF–1.7M

Select item 68212319.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Susanne Horn, Margaret Au, Lina Basel-Salmon, Pinar Bayrak-Toydemir, Alexander Chapin, Lior Cohen, Mariet W Elting, John M Graham, Jr, Claudia Gonzaga-Jauregui, Osnat Konen, Max Holzer, Johannes Lemke, Christine E Miller, Linda K Rey, Nicole I Wolf, Marjan M Weiss, Quinten Waisfisz, Ghayda M Mirzaa, Dagmar Wieczorek, Heinrich Sticht, Rami Abou Jamra

Brain. 2019 Nov; 142(11): 3351–3359. Published online 2019 Aug 29. doi: 10.1093/brain/awz264

PMCID:: PMC6821231

Article PDF–1.0M

Select item 573883510.

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Kit San Yeung, Winnie Wan Yee Tso, Janice Jing Kun Ip, Christopher Chun Yu Mak, Gordon Ka Chun Leung, Mandy Ho Yin Tsang, Dingge Ying, Steven Lim Cho Pei, So Lun Lee, Wanling Yang, Brian Hon-Yin Chung

Mol Autism. 2017; 8: 66. Published online 2017 Dec 20. doi: 10.1186/s13229-017-0182-4

PMCID:: PMC5738835

Article PDF–2.4M

Select item 432671211.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP) - pure coincidence?

Dennis Döcker, Max Schubach, Moritz Menzel, Christiane Spaich, Heinz-Dieter Gabriel, Martin Zenker, Deborah Bartholdi, Saskia Biskup

Eur J Hum Genet. 2015 Mar; 23(3): 409–412. Published online 2014 Jun 18. doi: 10.1038/ejhg.2014.118

PMCID:: PMC4326712

Article PDF–493K

Select item 905978712.

The utility of cerebrospinal fluid–derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report

Wei-Liang Chen, Emily Pao, James Owens, Ian Glass, Colin Pritchard, Brain H. Shirts, Christina Lockwood, Ghayda M. Mirzaa

Cold Spring Harb Mol Case Stud. 2022 Apr; 8(3): a006188. doi: 10.1101/mcs.a006188

PMCID:: PMC9059787

Article PDF–4.8M

Select item 564877213.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

M. R. F. Reijnders, M. Kousi, G. M. van Woerden, M. Klein, J. Bralten, G. M. S. Mancini, T. van Essen, M. Proietti-Onori, E. E. J. Smeets, M. van Gastel, A. P. A. Stegmann, S. J. C. Stevens, S. H. Lelieveld, C. Gilissen, R. Pfundt, P. L. Tan, T. Kleefstra, B. Franke, Y. Elgersma, N. Katsanis, H. G. Brunner

Nat Commun. 2017; 8: 1052. Published online 2017 Oct 20. doi: 10.1038/s41467-017-00933-6

PMCID:: PMC5648772

Article PDF–1.3M

Select item 728270814.

Differential Altered Auditory Event-Related Potential Responses in Young Boys on the Autism Spectrum With and Without Disproportionate Megalencephaly

Rosanna De Meo-Monteil, Christine Wu Nordahl, David G. Amaral, Sally J. Rogers, Sevan K. Harootonian, Joshua Martin, Susan M. Rivera, Clifford D. Saron

Autism Res. Author manuscript; available in PMC 2020 Jun 9.

Published in final edited form as: Autism Res. 2019 Aug; 12(8): 1236–1250. Published online 2019 Jun 3. doi: 10.1002/aur.2137

PMCID:: PMC7282708

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Select item 817688515.

PIK3R2/Pik3r2 activating mutations result in brain overgrowth and EEG changes

Xiuyu Shi, Youngshin Lim, Abigail K. Myers, Brenna L. Stallings, Almedia Mccoy, Jordan Zeiger, Joshua Scheck, Ginam Cho, Eric D. Marsh, Ghayda M. Mirzaa, Tao Tao, Jeffrey A. Golden

Ann Neurol. Author manuscript; available in PMC 2021 Dec 1.

Published in final edited form as: Ann Neurol. 2020 Dec; 88(6): 1077–1094. Published online 2020 Sep 28. doi: 10.1002/ana.25890

PMCID:: PMC8176885

Article PDF–1.8M

Select item 390895216.

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

William J. Tapper, Nicola Foulds, Nicholas C. P. Cross, Paula Aranaz, Joannah Score, Claire Hidalgo-Curtis, David O. Robinson, Jane Gibson, Sarah Ennis, I. Karen Temple, Andrew Collins

PLoS One. 2014; 9(1): e86940. Published online 2014 Jan 31. doi: 10.1371/journal.pone.0086940

PMCID:: PMC3908952

Article PDF–620K

Select item 923998917.

Equivocal evidence for a link between megalencephaly-related genes and primate brain size evolution

Alex R. DeCasien, Amber E. Trujillo, Mareike C. Janiak, Etta P. Harshaw, Zosia N. Caes, Gabriela A. Galindo, Rachel M. Petersen, James P. Higham

Sci Rep. 2022; 12: 10902. Published online 2022 Jun 28. doi: 10.1038/s41598-022-12953-4

PMCID:: PMC9239989

Article PDF–1.0M

Select item 1016243318.

Novel correlative analysis identifies multiple genomic variations impacting ASD with macrocephaly

Chen Fu, Justine Ngo, Shanshan Zhang, Leina Lu, Alexander Miron, Simon Schafer, Fred H Gage, Fulai Jin, Fredrick R Schumacher, Anthony Wynshaw-Boris

Hum Mol Genet. 2023 May 15; 32(10): 1589–1606. Published online 2022 Dec 15. doi: 10.1093/hmg/ddac300

PMCID:: PMC10162433

Article PDF–2.8M

Select item 635456719.

Heterozygosity for Nuclear Factor One X in mice models features of Malan syndrome

Sabrina Oishi, Danyon Harkins, Nyoman D. Kurniawan, Maria Kasherman, Lachlan Harris, Oressia Zalucki, Richard M. Gronostajski, Thomas H.J. Burne, Michael Piper

EBioMedicine. 2019 Jan; 39: 388–400. Published online 2018 Nov 29. doi: 10.1016/j.ebiom.2018.11.044

PMCID:: PMC6354567

Article PDF–5.1M

Select item 734652820.

Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway

Steven D. Klein, Dzung C. Nguyen, Viraj Bhakta, Derek Wong, Vivian Y. Chang, Tom B. Davidson, Julian A. Martinez-Agosto

Am J Med Genet A. Author manuscript; available in PMC 2020 Jul 9.

Published in final edited form as: Am J Med Genet A. 2019 Dec; 179(12): 2517–2531. Published online 2019 Oct 22. doi: 10.1002/ajmg.a.61368

PMCID:: PMC7346528

Article PDF–1.3M

Did you mean: acrocephaly (1332 items)

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PMC Images search for macrocephaly【医】

Figure 5Probability of pathogenic CNV in presence (A) /absence (B) of facial dysmorphia, epilepsy and macrocephaly in ASD patients according to logistic regression.

(A) Probability of pathogenic CNV in ASD patients with facial dysmorphia, epilepsy and macrocephaly, (B) probability of pathogenic CNV absence in ASD patients without facial dysmorphia, epilepsy and macrocephaly.

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

PeerJ. 2019;7:e7979.
Figure 1

Phenotypic features of individuals with Autism Macrocephaly subtypes

Macrocephaly as a Clinical Indicator of Genetic Subtypes in Autism

Autism Res. ;6(1):51-56.
Figure 1

(a) Image of Patient 2. (b) Patient 2 exhibits frontal bossing and macrocephaly.

12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region

Case Rep Genet. 2015;2015:192071.
Figure 6Formula for pathogenic CNV probability calculation in ASD patients with epilepsy, macrocephaly and dysmorphism.

β estimation of parameter from logistic regression, × presence/absence of each clinical feature (epilepsy, macrocephaly, dysmorphism).

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

PeerJ. 2019;7:e7979.