Results 161 to 170 of about 6,501 (209)

Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?

Cancer Genetics, 2020
Familial cerebral cavernous malformation syndromes are most commonly caused by mutations in one of three genes. The overlap of these genetic malformations with other acquired neoplastic lesions and congenital malformations is still under investigation ...
Hanna Algattas, Hussam Abou-Al-Shaar, James Felker   +2 more
exaly   +2 more sources

Familial Cerebral Cavernous Malformations [PDF]

Stroke, 2019
Atif Zafar, Syed A Quadri, Mudassir Farooqui   +2 more
exaly   +3 more sources

A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation

Clinical Neurology and Neurosurgery, 2018
Chenlong Yang, Yulun Xu
exaly   +2 more sources

Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation

World Neurosurgery, 2009
Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions. Until now, vertebral hemangiomas associated with CCM have been described only in one case. The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare.
Irene Toldo
exaly   +5 more sources

Primary Delayed Onset Craniosynostosis in a Child With ERF-Related Craniosynostosis Syndrome and Familial Cerebral Cavernous Malformation Syndrome

The Cleft Palate-Craniofacial Journal, 2022
Primary delayed onset craniosynostosis is defined as premature suture fusion that developed despite clear radiographic evidence of normal postnatal calvarial configuration and patent sutures earlier in life.
S. Radu, B. Jedrzejewski, Leo J. Urbinelli   +2 more
semanticscholar   +1 more source

Abstract WP18: Association Of Quality Of Life Domains And Clinical Symptoms In Familial Cerebral Cavernous Malformation Patients

Stroke, 2023
Background: Familial cerebral cavernous malformation (FCCM) is characterized by multiple brain lesions at risk for intracranial hemorrhage (ICH) and neurological morbidity, affecting quality of life (QoL).
Cynthia Tsang, J. Nelson, Charles McCulloch, E. Smith, S. Vadivelu, Amy L Akers, Cornelia Lee, Jospeh Zabramski, A. Zafar, M. Torbey, L. Morrison, I. Awad, Helen Kim   +12 more
semanticscholar   +1 more source

Mutations in KRIT1 in Familial Cerebral Cavernous Malformations

Neurosurgery, 2000
The recognition of six unrelated Hispanic-American families in which cerebral cavernous malformations (CCM) segregated as an autosomal dominant trait established a genetic basis for this disease. Linkage analysis subsequently identified locus heterogeneity with disease genes for CCM at chromosomal regions 7q, 7p, and 3q. Recently, mutations in KRIT1, a
J, Zhang, R E, Clatterbuck, D, Rigamonti, H C, Dietz   +3 more
openaire   +2 more sources

Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation

Neurology, 2021
Background and Objectives To identify fetal familial cerebral cavernous malformation (CCM) and a novel variation. Methods A 37-year-old pregnant woman (G4P0) presented with right-handed numbness since 2 weeks at 31 weeks of gestation.
Dan Cheng, X. Shang, Wanli Gao, F. Barkhof, Yaou Liu   +4 more
semanticscholar   +1 more source

Familial cerebral cavernous malformation: report of a further Italian family

Neurological Sciences, 2009
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and may occur as a sporadic or an autosomal dominant condition.
NANNUCCI, SERENA, PESCINI, FRANCESCA, POGGESI, ANNA, L. Ciolli, M. C. Patrosso, A. Marocchi, INZITARI, DOMENICO, S. Penco, PANTONI, LEONARDO   +8 more
openaire   +3 more sources

A Japanese pedigree of familial cerebral cavernous malformations--a case report. [PDF]

Hiroshima journal of medical sciences, 2015
Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported.
Imada, Yasutaka, Yuki, Kiyoshi, Migita, Keisuke, Sadatomo, Takashi, Kuwabara, Masashi, Yamada, Toru, Kurisu, Kaoru   +6 more
openaire   +2 more sources