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1. Full Text Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors
by Eaton, Katherine W and Tooke, Laura S and Wainwright, Luanne M and Judkins, Alexander R and Biegel, Jaclyn A
Pediatric Blood & Cancer, ISSN 1545-5009, 01/2011, Volume 56, Issue 1, pp. 7 - 15
Background Germline mutations and deletions of SMARCB1/INI1 in chromosome band 22q11.2 predispose patients to rhabdoid tumor and schwannomatosis. Previous... 
schwannomatosis | SMARCB1 | rhabdoid | INI1 | Schwannomatosis | Rhabdoid | SCHWANNOMATOSIS | SUPPRESSOR GENE | INI1 rhabdoid | RETINOBLASTOMA GENE | CANCER | FEATURES | ONCOLOGY | INI1 EXPRESSION | SARCOMAS | INI1/SMARCB1 | PEDIATRICS | GERM-LINE MOSAICISM | HSNF5/INI1 | HEMATOLOGY | schwannomatosis SMARCB1 | Genetic Predisposition to Disease | Humans | Child, Preschool | Infant | Male | Penetrance | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Chromosomal Proteins, Non-Histone - genetics | SMARCB1 Protein | Rhabdoid Tumor - genetics | DNA Mutational Analysis | Gene Deletion | Germ-Line Mutation | Family | Female | Mosaicism | Chromosomes, Human, Pair 22 | Infant, Newborn | Rhabdoid Tumor - etiology
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2. Full Text Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma
by Hornick, Jason L and Dal Cin, Paola and Fletcher, Christopher D.M
American Journal of Surgical Pathology, ISSN 0147-5185, 04/2009, Volume 33, Issue 4, pp. 542 - 550
INI1 (hSNF5/SMARCB1), a member of the SWI/SNF chromatin remodeling complex located on chromosome 22q11.2, is deleted or/or mutated in strictly defined... 
Malignant rhabdoid tumor | Epithelioid sarcoma | Snf5 | INI1 | SURGERY | DIAGNOSIS | SUPPRESSOR GENE | NEOPLASM | SMARCB1/INI1 | PATHOLOGY | SOFT-TISSUE | MALIGNANT RHABDOID TUMORS | malignant rhabdoid tumor | IMMUNOHISTOCHEMICAL ANALYSIS | epithelioid sarcoma | HSNF5/INI1 | CARCINOMA | ANGIOSARCOMA | Chromosomal Proteins, Non-Histone - metabolism | Humans | Soft Tissue Neoplasms - metabolism | Infant | Male | Carcinoma, Embryonal - metabolism | Sarcoma - pathology | Adenocarcinoma - secondary | DNA-Binding Proteins - metabolism | Immunohistochemistry - methods | SMARCB1 Protein | Sarcoma - metabolism | Transcription Factors - metabolism | Adenocarcinoma - metabolism | Carcinoma, Embryonal - secondary | Soft Tissue Neoplasms - pathology | Biomarkers, Tumor - metabolism | Female
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3. Full Text A Not-So-Benign Papular Eruption: Epithelioid sarcoma
by Michalski, B and Hackbarth, DA and Wilson, BD and Sokumbi, O and Yu, JD
AMERICAN JOURNAL OF DERMATOPATHOLOGY, ISSN 0193-1091, 06/2018, Volume 40, Issue 6, pp. E74 - E74
EXPRESSION | FEATURES | INI1 | DERMATOLOGY
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4. Full Text Poorly differentiated chordoma with loss of SMARCB1/INI1 expression in pediatric patients: A report of two cases and review of the literature
by Cha, Yoon Jin and Hong, Chang‐Ki and Kim, Dong‐Seok and Lee, Seung‐Koo and Park, Hyeon Jin and Kim, Se Hoon
Neuropathology, ISSN 0919-6544, 02/2018, Volume 38, Issue 1, pp. 47 - 53
Identification of loss of SMARCB1/INI1 expression in poorly differentiated (PD) chordoma in pediatric patients suggests that PD chordoma is an entity... 
immunohistochemistry | chordoma | SMARCB1/INI1 | brachyury | pediatrics | INVOLVEMENT | PATHOLOGY | CHILDHOOD | CANCER | NEUROSCIENCES | CLINICAL NEUROLOGY | MALIGNANT RHABDOID TUMORS | CHILDREN | INI1 | ATYPICAL TERATOID/RHABDOID TUMOR | HSNF5/INI1 | Tumors, Embryonal | Pediatrics | Children | Health aspects | Parkinson's disease | Neurodegenerative diseases | EWSR1 gene | INI1 protein | FLI-1 protein | Literature reviews | Nucleoli | Magnetic resonance imaging | Fluorescence in situ hybridization | Skull | Movement disorders | Tumors
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5. Full Text SMARCB1/INI1 Loss in Epithelioid Schwannoma
by Jo, Vickie Y and Fletcher, Christopher D.M
American Journal of Surgical Pathology, ISSN 0147-5185, 2017, Volume 41, Issue 8, pp. 1013 - 1022
epithelioid | INI1/SMARCB1 | soft tissue | schwannoma
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6. Full Text Utility of characteristic "Weak to Absent' INI1/SMARCB1/BAF47 expression in diagnosis of synovialsarcomas
by Rekhi, B and Vogel, U
APMIS, ISSN 0903-4641, 07/2015, Volume 123, Issue 7, pp. 618 - 628
Recently, very few studies have shown value of immunohistochemical (IHC) expression of INI1/SMARCB1 in diagnosis of synovial sarcomas (SSs). This study was... 
RHABDOID TUMORS | synovial sarcoma | SMARCB1 | SOFT-TISSUE SARCOMAS | TLE1 | immunohistochemistry of soft tissue sarcomas | 22q11 | MICROBIOLOGY | BAF47 | IMMUNOLOGY | PATHOLOGY | CANCER | INI1 | FEATURES | SCHWANNOMAS | IMMUNOHISTOCHEMICAL ANALYSIS | INI1 EXPRESSION | EPITHELIOID SARCOMA | HSNF5/INI1
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7. Full Text SMARCB1 (INI-1)-deficient sinonasal carcinoma
by Agaimy, Abbas and Hartmann, Arndt and Antonescu, Cristina R and Chiosea, Simion I and El-Mofty, Samir K and Geddert, Helene and Iro, Heinrich and Lewis, James S and Märkl, Bruno and Mills, Stacey E and Riener, Marc-Oliver and Robertson, Thomas and Sandison, Ann and Semrau, Sabine and Simpson, Roderick H.W and Stelow, Edward and Westra, William H and Bishop, Justin A
American Journal of Surgical Pathology, ISSN 0147-5185, 2017, Volume 41, Issue 4, pp. 458 - 471
sinonasal tract | basaloid carcinoma | SMARCB1-deficient sinonasal carcinoma | SMARCB1 | rhabdoid carcinoma | ARID1A | SMARCA2 | INI1 | SMARCA4
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8. Full Text Epithelioid Malignant Peripheral Nerve Sheath Tumor Arising in a Schwannoma, in a Patient With "Neuroblastoma-like" Schwannomatosis and a Novel Germ line SMARCB1 Mutation
by Carter, JM and O'Hara, C and Dundas, G and Gilchrist, D and Collins, MS and Eaton, K and Judkins, AR and Biegel, JA and Folpe, AL
AMERICAN JOURNAL OF SURGICAL PATHOLOGY, ISSN 0147-5185, 01/2012, Volume 36, Issue 1, pp. 154 - 160
Epithelioid malignant peripheral nerve sheath tumors arising in preexisting schwannomas are extremely rare. We report an unusual example occurring in a patient... 
RHABDOID TUMORS | TRANSFORMATION | SURGERY | malignant peripheral nerve sheath tumor | SMARCB1/INI1 | SOLITARY | schwannomatosis | PATHOLOGY | FAMILIAL SCHWANNOMATOSIS | SPORADIC SCHWANNOMATOSIS | INI1/SMARCB1 | SPECTRUM | DIAGNOSTIC-CRITERIA | schwannoma | NEURILEMOMA | ANGIOSARCOMA
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9. Full Text Genetic Ablation of Cyclin D1 Abrogates Genesis of Rhabdoid Tumors Resulting from Ini1 Loss
by Mary Tsikitis and Zhikai Zhang and Winfried Edelman and David Zagzag and Ganjam V. Kalpana and Matthew D. Scharff
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2005, Volume 102, Issue 34, pp. 12129 - 12134
Rhabdoid tumors are aggressive pediatric malignancies for which, currently, there are no effective or standard treatment strategies. Rhabdoid tumors arise... 
Tumor cell line | Biological Sciences | Cell lines | Cell cycle | Antibodies | Mice | Rhabdoid tumors | Genetic mutation | Cyclins | Human genetics | Tumors | Ini1/hSNF5 | Tumorigenesis | Atypical teratoid | D1 EXPRESSION | ACTIVATION | MECHANISM | cell cycle | MULTIDISCIPLINARY SCIENCES | TRANSCRIPTION | INI1 / hSNF5 | CELL-CYCLE ARREST | atypical teratoid | LUNG CANCERS | INI1/HSNF5 | tumorigenesis | MUTATIONS | HSNF5/INI1 | Immunohistochemistry | Cell Cycle - genetics | Gene Targeting | Chromosomal Proteins, Non-Histone | Transcription Factors - genetics | DNA Primers | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Blotting, Western | DNA-Binding Proteins - metabolism | SMARCB1 Protein | Transcription Factors - metabolism | Animals | Rhabdoid Tumor - genetics | Cyclin D1 - genetics | Mice, Mutant Strains | Gene Deletion | Cell Cycle - physiology | Gene Expression Regulation, Neoplastic - genetics | Crosses, Genetic | Tumor suppressor genes | Research | Rhabdomyosarcoma | hSNF5 | INI1
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10. Full Text Sellar Atypical Teratoid/Rhabdoid Tumor (AT/RT)
by Nakata, Satoshi and Nobusawa, Sumihito and Hirose, Takanori and Ito, Shinji and Inoshita, Naoko and Ichi, Shunsuke and Amatya, Vishwa J and Takeshima, Yukio and Sugiyama, Kazuhiko and Sonoda, Yukihiko and Haga, Hironori and Hirato, Junko and Nakazato, Yoichi and Yokoo, Hideaki
American Journal of Surgical Pathology, ISSN 0147-5185, 2017, Volume 41, Issue 7, pp. 932 - 940
AT/RT | sellar region | INI1 | stag-horn appearance
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11. Full Text Prognostic value of MIB-1, p53, epidermal growth factor receptor, and INI1 in childhood chordomas
by Yadav, Rajni and Sharma, Mehar Chand and Malgulwar, Prit Benny and Pathak, Pankaj and Sigamani, Elanthenral and Suri, Vaishali and Sarkar, Chitra and Kumar, Amandeep and Singh, Manmohan and Sharma, Bhawani Shankar and Garg, Ajay and Bakhshi, Sameer and Faruq, Mohammed
Neuro-Oncology, ISSN 1522-8517, 03/2014, Volume 16, Issue 3, pp. 372 - 381
Background. Chordomas are slow-growing tumors and most commonly involve the sacrum and clivus. Multiple recurrences are frequent. Childhood chordomas are rare... 
chordoma | EGFR | clivus | INI1 | pediatric | RHABDOID TUMORS | SMARCB1/INI1 PROTEIN | SOFT-TISSUE | CLINICAL NEUROLOGY | CHILDREN | INTRACRANIAL CHORDOMA | ONCOLOGY | EPITHELIOID SARCOMA | CRANIAL CHORDOMAS | HSNF5/INI1 | EXPRESSION | SKULL BASE | Prognosis | Chromosomal Proteins, Non-Histone - metabolism | Brain Neoplasms - diagnosis | Humans | Middle Aged | Brain Neoplasms - pathology | Chordoma - metabolism | Tumor Suppressor Protein p53 - metabolism | Child, Preschool | Ki-67 Antigen - metabolism | Male | Brain Neoplasms - metabolism | Chordoma - pathology | DNA-Binding Proteins - metabolism | SMARCB1 Protein | Transcription Factors - metabolism | Receptor, Epidermal Growth Factor - metabolism | Adolescent | Biomarkers | Adult | Female | Aged | Chordoma - diagnosis | Child | Basic and Translational Investigations
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12. Full Text hSNFS/INII-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities
by Bourdeaut, F and Freneaux, P and Thuille, B and Lellouch-Tubiana, A and Nicolas, A and Couturier, J and Pierron, G and Sainte-Rose, C and Bergeron, C and Bouvier, R and Rialland, X and Laurence, V and Michon, J and Sastre-Garau, X and Delattre, O
JOURNAL OF PATHOLOGY, ISSN 0022-3417, 02/2007, Volume 211, Issue 3, pp. 323 - 330
Rhabdoid tumours (RTs) are rare but highly aggressive tumours of childhood. Their rarity and their miscellaneous locations make the diagnosis particularly... 
SUPPRESSOR | germline | adults | PATHOLOGY | INI1 | mutations | GENE | ONCOLOGY | rhabdoid | hSNF5/INI1 | IMMUNOHISTOCHEMICAL ANALYSIS | choroid plexus carcinoma | CELL-CYCLE | immunohistochemistry | INFANCY
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13. Full Text SMARCB1 (INI1)–deficient sinonasal carcinoma: a series of 13 cases with assessment of histologic patterns
by Kakkar, Aanchal and Antony, Vijay Mariadas and Pramanik, Raja and Sakthivel, Pirabu and Singh, Chirom Amit and Jain, Deepali
Human Pathology, ISSN 0046-8177, 01/2019, Volume 83, pp. 59 - 67
A significant proportion of sinonasal malignancies comprise poorly differentiated/undifferentiated carcinomas that defy accurate histologic classification and... 
Plasmacytoid | Basaloid | Sinonasal carcinoma | Oncocytic | SMARCB1/ INI1 | Rhabdoid | TARGETING CYCLIN D1 | SMARCB1/INI1 | PATHOLOGY | TUMORS | Immunohistochemistry | Squamous cell carcinoma | Health aspects | Analysis | Blood proteins | Histopathology | Archives & records | Lymphocytes | Morphology | Nose | Neutrophils | Cell cycle | Patients | Cytoplasm | Tumors
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14. Full Text Molecular and Clinicopathologic Heterogeneity of Intracranial Tumors Mimicking Extraskeletal Myxoid Chondrosarcoma
by Velz, Julia and Agaimy, Abbas and Frontzek, Karl and Neidert, Marian Christoph and Bozinov, Oliver and Wagner, Ulrich and Fritz, Christine and Coras, Roland and Hofer, Silvia and Bode-Lesniewska, Beata and Rushing, Elisabeth
Journal of Neuropathology & Experimental Neurology, ISSN 0022-3069, 08/2018, Volume 77, Issue 8, pp. 727 - 735
Abstract Primary intracranial neoplasms with features of extraskeletal myxoid chondrosarcomas (EMC) are extremely rare and poorly characterized tumors with... 
Cartilaginous tumors | SMARCB1 (INI1) loss | Intracranial extraskeletal myxoid chondrosarcoma | EWSR1 | LOCATION | EWSR1-CREB1 | SMARCB1/INI1 | CLEAR-CELL SARCOMA | ANGIOMATOID FIBROUS HISTIOCYTOMA | PATHOLOGY | VARIANT | NEUROSCIENCES | CLINICAL NEUROLOGY | FUSIONS | OF-THE-LITERATURE | Tumors
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15. Full Text Epithelioid sarcoma a clinicopathologic and immunohistochemical analysis of 106 cases from the french sarcoma group
by Chbani, Laila and Guillou, Louis and Terrier, Philippe and Decouvelaere, Anne Valérie and Grégoire, Fleur and Terrier-Lacombe, Marie José and Ranchère, Dominique and Robin, Yves Marie and Collin, Françoise and Fréneaux, Paul and Coindre, Jean-Michel
American Journal of Clinical Pathology, ISSN 0002-9173, 02/2009, Volume 131, Issue 2, pp. 222 - 227
Epithelioid sarcoma (ES) is rare with a poor prognosis and for which a loss of INI1 expression has been recently reported. We report a study of 106 cases with... 
Epithelioid sarcoma | Prognosis | INI1 | DIAGNOSIS | SERIES | SMARCB1/INI1 | HSNF5/INI1 | MUTATIONS | PATHOLOGY | SOFT-TISSUE | VARIANT | MALIGNANT RHABDOID TUMORS | Humans | Middle Aged | DNA-Binding Proteins - analysis | Male | Sarcoma - therapy | SMARCB1 Protein | Young Adult | Soft Tissue Neoplasms - chemistry | Sarcoma - mortality | Aged, 80 and over | Adult | Female | Child | Soft Tissue Neoplasms - therapy | Soft Tissue Neoplasms - mortality | Biomarkers, Tumor - analysis | Survival Rate | Combined Modality Therapy | Sarcoma - pathology | Mitotic Index | Sarcoma - chemistry | Chromosomal Proteins, Non-Histone - analysis | Adolescent | Soft Tissue Neoplasms - pathology | Aged | Transcription Factors - analysis
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16. Full Text Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis
by Hulsebos, Theo J.M and Plomp, Astrid S and Wolterman, Ruud A and Robanus-Maandag, Els C and Baas, Frank and Wesseling, Pieter
The American Journal of Human Genetics, ISSN 0002-9297, 2007, Volume 80, Issue 4, pp. 805 - 810
Patients with schwannomatosis develop multiple schwannomas but no vestibular schwannomas diagnostic of neurofibromatosis type 2. We report an inactivating... 
TUMOR-SUPPRESSOR GENE | NF2 LOCUS | HSNF5/INI1 | CANCER | GENETICS & HEREDITY | INI1 | Immunohistochemistry | Genetic Predisposition to Disease | Chromosomal Proteins, Non-Histone - metabolism | Humans | Molecular Sequence Data | Exons - genetics | Male | Transcription Factors - genetics | DNA Primers | DNA-Binding Proteins - genetics | Germ-Line Mutation - genetics | Sequence Analysis, DNA | Neurilemmoma - pathology | Chromosomal Proteins, Non-Histone - genetics | DNA-Binding Proteins - metabolism | SMARCB1 Protein | Transcription Factors - metabolism | Neurilemmoma - genetics | Base Sequence | Adult | Female | Genetic aspects | Research | Gene mutations | Neurofibromatosis | Report
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17. Full Text Dual loss of the SWI/SNF complex ATPases SMARCA4/BRG1 and SMARCA2/BRM is highly sensitive and specific for small cell carcinoma of the ovary, hypercalcaemic type
by Karnezis, Anthony N and Wang, Yemin and Ramos, Pilar and Hendricks, William PD and Oliva, Esther and D'Angelo, Emanuela and Prat, Jaime and Nucci, Marisa R and Nielsen, Torsten O and Chow, Christine and Leung, Samuel and Kommoss, Friedrich and Kommoss, Stefan and Silva, Annacarolina and Ronnett, Brigitte M and Rabban, Joseph T and Bowtell, David D and Weissman, Bernard E and Trent, Jeffrey M and Gilks, C Blake and Huntsman, David G
The Journal of Pathology, ISSN 0022-3417, 02/2016, Volume 238, Issue 3, pp. 389 - 400
Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) is a lethal and sometimes familial ovarian tumour of young women and children. We and others... 
trichostatin A | SMARCA2/BRM | SMARCB1/INI1 | SMARCA4/BRG1 | SWI/SNF | small cell carcinoma | HDAC inhibitor | rhabdoid tumour | epigenetic silencing | hypercalcaemic type | DOWN-REGULATION | CYCLE ARREST | BRM EXPRESSION | PATHOLOGY | LUNG-CANCER | CD44 EXPRESSION | CANCER GENOMICS | BRG-1 | HIGH-GRADE | ONCOLOGY | NEUROENDOCRINE CARCINOMA | RHABDOID TUMOR | Immunohistochemistry | Carcinoma, Small Cell - genetics | Humans | Transcription Factors - deficiency | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | Ovarian Neoplasms - genetics | SMARCB1 Protein | Cell Transformation, Neoplastic - genetics | Nuclear Proteins - deficiency | Biomarkers, Tumor - metabolism | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Hypercalcemia - genetics | Chromosomal Proteins, Non-Histone - metabolism | Ovarian Neoplasms - diagnosis | Cell Proliferation - physiology | Adenosine Triphosphatases - metabolism | Nuclear Proteins - metabolism | DNA Helicases - deficiency | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Carcinoma, Small Cell - diagnosis | Chromosomal Proteins, Non-Histone - deficiency | Chromosomal Proteins, Non-Histone - genetics | Transcription Factors - metabolism | DNA Helicases - metabolism | Cell Line, Tumor | Gene Silencing - physiology | Carcinoma | Sarcoma | Adenosine triphosphatase | Ovarian cancer | Cancer | SMARCB1 | SWI | BRG1 | Original Papers | Original Paper | SNF | SMARCA2 | SMARCA4 | INI1 | BRM
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18. Full Text SWI/SNF Complex–deficient Undifferentiated/Rhabdoid Carcinomas of the Gastrointestinal Tract: A Series of 13 Cases Highlighting Mutually Exclusive Loss of SMARCA4 and SMARCA2 and Frequent Co-inactivation of SMARCB1 and SMARCA2
by Agaimy, Abbas and Daum, Ondrej and Märkl, Bruno and Lichtmannegger, Ines and Michal, Michal and Hartmann, Arndt
The American Journal of Surgical Pathology, ISSN 0147-5185, 04/2016, Volume 40, Issue 4, pp. 544 - 553
Undifferentiated gastrointestinal tract carcinomas are rare highly aggressive neoplasms with frequent but not obligatory rhabdoid features. Recent studies... 
Rhabdoid carcinoma | SMARCB1/INI1 | ARID1A | Gastrointestinal | SMARCA2 | Rhabdoid phenotype | SMARCA4 | RHABDOID TUMORS | SURGERY | PBRM1 | rhabdoid carcinoma | COMPONENTS | COLORECTAL-CARCINOMA | PATHOLOGY | gastrointestinal | INI1 EXPRESSION | SMALL-CELL CARCINOMA | HYPERCALCEMIC TYPE | SMARCA4 BRG1 | MUTATIONS | ARID1A EXPRESSION | rhabdoid phenotype | Immunohistochemistry | Gastrointestinal Neoplasms - genetics | Humans | Middle Aged | Male | Transcription Factors - genetics | Brain Neoplasms | Chromosomal Proteins, Non-Histone - genetics | Neoplastic Syndromes, Hereditary | Gastrointestinal Neoplasms - pathology | Aged, 80 and over | Adult | Carcinoma - genetics | Colorectal Neoplasms | Female | Aged | Carcinoma - pathology | Nuclear Proteins - genetics | DNA Helicases - genetics
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19. Full Text Immunohistochemical Analysis of SMARCB1/INI-1 Expression in Collecting Duct Carcinoma
by Elwood, Hillary and Chaux, Alcides and Schultz, Luciana and Illei, Peter B and Baydar, Dilek E and Billis, Athanase and Sharma, Rajni and Argani, Pedram and Epstein, Jonathan I and Netto, George J
Urology, ISSN 0090-4295, 2011, Volume 78, Issue 2, pp. 474.e1 - 474.e5
Objectives Collecting duct carcinoma (CDC) is a rare and aggressive renal tumor with a tendency to involve the renal sinus. CDC displays variable morphologic... 
Urology | TUMOR-SUPPRESSOR HSNF5/INI1 | DIAGNOSIS | INI1/HSNF5 | INI1 EXPRESSION | UROLOGY & NEPHROLOGY | ABSENCE | MUTATIONS | SNF5 | TUMORIGENESIS | CANCER | MALIGNANT RHABDOID TUMORS | Immunohistochemistry | Carcinoma, Renal Cell - chemistry | Humans | Middle Aged | DNA-Binding Proteins - analysis | Male | Transcription Factors - biosynthesis | Kidney Neoplasms - metabolism | Kidney Neoplasms - chemistry | SMARCB1 Protein | Carcinoma, Renal Cell - metabolism | Chromosomal Proteins, Non-Histone - analysis | Chromosomal Proteins, Non-Histone - biosynthesis | Female | Aged | Transcription Factors - analysis | DNA-Binding Proteins - biosynthesis | Medical colleges | Carcinoma | Analysis | Cancer
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20. Full Text A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
by Diets, Illja J and Prescott, Trine and Champaigne, Neena L and Mancini, Grazia M. S and Krossnes, Bård and Frič, Radek and Kocsis, Kristina and Jongmans, Marjolijn C. J and Kleefstra, Tjitske
Genetics in Medicine, ISSN 1098-3600, 06/2018, Volume 21, Issue 3, pp. 1 - 8
Purpose: SMARCB1 encodes a subunit of the SWI/SNF complex involved in chromatin remodeling. Pathogenic variants (PV) in this gene can give rise to three... 
Recurrent pathogenic variant | Intellectual disability | SMARCB1 | Hydrocephalus | Choroid plexus hyperplasia | SCHWANNOMATOSIS | GERMLINE MUTATION | TUMOR | INI1 | COFFIN-SIRIS SYNDROME | GENE | GENETICS & HEREDITY | HSNF5/INI1 | NF2 | GENOTYPE-PHENOTYPE
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