Literature DB >> 17963258

Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).

Helga V Toriello, John B Mulliken.   

Abstract

Entities:  

Mesh：

Year:  2007        PMID： 17963258     DOI： 10.1002/ajmg.a.31971

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  11 in total

Review 1.  Multifocal arteriovenous malformations and facial nevus without leptomeningeal angioma: a variant form of Sturge-Weber syndrome? A case report and review of the literatures.

Authors:  In-Seok Bae; Hyeong-Joong Yi; Young Jun Lee
Journal:  Childs Nerv Syst       Date:  2012-09-30       Impact factor: 1.475

2.  Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature.

Authors:  Jesus E Dueñas-Arias; Eliakym Arámbula-Meraz; Luis O Frías-Castro; Rosalio Ramos-Payán; Jose A Quibrera-Matienzo; Fred Luque-Ortega; E Maribel Aguilar-Medina
Journal:  J Med Case Rep       Date:  2009-09-08

Review 3.  Neurocutaneous vascular syndromes.

Authors:  Katherine B Puttgen; Doris D M Lin
Journal:  Childs Nerv Syst       Date:  2010-06-27       Impact factor: 1.475

4.  Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

Authors:  Atsuko Harada; Fuyuki Miya; Hidetsuna Utsunomiya; Mitsuhiro Kato; Takumi Yamanaka; Tatsuhiko Tsunoda; Kenjiro Kosaki; Yonehiro Kanemura; Mami Yamasaki
Journal:  Childs Nerv Syst       Date:  2014-11-22       Impact factor: 1.475

5.  Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome (MCAP): A Rare Dynamic Genetic Disorder.

Authors:  Kalyan Sarma; Manoj K Nayak; Biswamohan Mishra; Shailesh B Gaikwad
Journal:  Cureus       Date:  2022-05-18

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

Authors:  Dennis Döcker; Max Schubach; Moritz Menzel; Christiane Spaich; Heinz-Dieter Gabriel; Martin Zenker; Deborah Bartholdi; Saskia Biskup
Journal:  Eur J Hum Genet       Date:  2014-06-18       Impact factor: 4.246

7.  Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

Authors:  Robert L Conway; Barry D Pressman; William B Dobyns; Moise Danielpour; John Lee; Pedro A Sanchez-Lara; Merlin G Butler; Elaine Zackai; Lindsey Campbell; Sulagna C Saitta; Carol L Clericuzio; Jeff M Milunsky; H Eugene Hoyme; Joseph Shieh; John B Moeschler; Barbara Crandall; Julie L Lauzon; David H Viskochil; Brian Harding; John M Graham
Journal:  Am J Med Genet A       Date:  2007-12-15       Impact factor: 2.802

8.  Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea.

Authors:  Yeon-Chul Choi; Mi-Sun Yum; Min-Jee Kim; Yun-Jung Lee; Tae-Sung Ko
Journal:  Korean J Pediatr       Date:  2016-11-30

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

Authors:  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
Journal:  Mol Autism       Date:  2017-12-20       Impact factor: 7.509

10.  Phenotype with a side of genotype, please: Patients, parents and priorities in rare genetic disease.

Authors:  Christy Collins
Journal:  Appl Transl Genom       Date:  2016-02-01
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