Pages that link to "Q33800041"

The following pages link to SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis (Q33800041):

Displaying 28 items.

• SWI/SNF chromatin remodeling complexes and cancer (Q26998657) (← links)
• Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation (Q30277398) (← links)
• Therapeutic advances for the tumors associated with neurofibromatosis type 1, type 2, and schwannomatosis (Q30357776) (← links)
• The molecular biology of vestibular schwannomas and its association with hearing loss: a review. (Q30467803) (← links)
• Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability (Q34283663) (← links)
• Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas (Q34393793) (← links)
• Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb. (Q35025665) (← links)
• Expanding the mutational spectrum of LZTR1 in schwannomatosis (Q35722195) (← links)
• Pediatric Non-vestibular Schwannoma (Q36350196) (← links)
• The neuropsychology of depression and its implications for cognitive therapy (Q36808904) (← links)
• The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis (Q37601480) (← links)
• Update on pediatric cancer predisposition syndromes (Q38102639) (← links)
• A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas (Q38862375) (← links)
• Premature termination of SMARCB1 translation may be followed by reinitiation in schwannomatosis-associated schwannomas, but results in absence of SMARCB1 expression in rhabdoid tumors. (Q39003338) (← links)
• An association of peripheral nerve sheath tumors and lipomas (Q39024134) (← links)
• Solitary epicranial neurofibroma with NF1-related germline mutation: case report (Q41790243) (← links)
• Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri (Q44718402) (← links)
• Favorable outcome of patients affected by rhabdoid tumors due to rhabdoid tumor predisposition syndrome (RTPS). (Q45382547) (← links)
• Rehabilitation of the emotional problems of brain disorders in developing countries (Q48417128) (← links)
• Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. (Q48510274) (← links)
• Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. (Q53116195) (← links)
• A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus (Q56538973) (← links)
• Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis (Q57266550) (← links)
• Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants (Q57289199) (← links)
• The neural bases of prosody: Insights from lesion studies and neuroimaging (Q58250674) (← links)
• Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1 (Q88739307) (← links)
• Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas (Q90146619) (← links)
• Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing (Q96954106) (← links)