scholarly article | Q13442814 |
P50 | author | Neil J. Sebire | Q38549176 |
Eugene Healy | Q39812037 | ||
Philip Stanier | Q50983740 | ||
Neil W Bulstrode | Q56241474 | ||
P2093 | author name string | Anna C Thomas | |
Gudrun E Moore | |||
Sayeda Abu-Amero | |||
Veronica A Kinsler | |||
Miho Ishida | |||
Deborah Morrogh | |||
Estelle Chanudet | |||
Jane Chalker | |||
Olga Slater | |||
Rodger Palmer | |||
Kathryn McKenzie | |||
Sandra Hing | |||
Sam Loughlin | |||
P2860 | cites work | A mosaic activating mutation in AKT1 associated with the Proteus syndrome | Q24598593 |
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome | Q24608709 | ||
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation | Q24655603 | ||
A restricted spectrum of NRAS mutations causes Noonan syndrome | Q27658480 | ||
Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers | Q27851426 | ||
RAS oncogenes: weaving a tumorigenic web | Q28250360 | ||
Proliferative nodules arising within congenital melanocytic nevi: a histologic, immunohistochemical, and molecular analyses of 43 cases | Q28307906 | ||
Giant congenital melanocytic nevi: the significance of neurocutaneous melanosis in neurologically asymptomatic children | Q30639616 | ||
High frequency of BRAFV600E mutation in acquired nevi and small congenital nevi, but low frequency of mutation in medium-sized congenital nevi | Q33243184 | ||
Melanoma risk in congenital melanocytic naevi: a systematic review | Q33997045 | ||
Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations | Q33998283 | ||
Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis | Q34012789 | ||
Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes | Q34013879 | ||
Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis | Q34031334 | ||
Giant congenital melanocytic nevi: brain magnetic resonance findings in neurologically asymptomatic children. | Q34060236 | ||
Oncogenic NRAS cooperates with p53 loss to generate melanoma in zebrafish | Q34144327 | ||
High frequency of BRAF mutations in nevi | Q34160519 | ||
RAS Interaction with PI3K: More Than Just Another Effector Pathway | Q34202692 | ||
Epidemiology of congenital pigmented naevi: I. Incidence rates and relative frequencies | Q34716617 | ||
Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi | Q35571122 | ||
Genetic changes in neoplasms arising in congenital melanocytic nevi: differences between nodular proliferations and melanomas | Q35789193 | ||
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development | Q36098992 | ||
Neurocutaneous melanosis: definition and review of the literature | Q37241971 | ||
Familial clustering of giant congenital melanocytic nevi | Q37493595 | ||
Clinical manifestations of mutations in RAS and related intracellular signal transduction factors | Q37900462 | ||
Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone | Q38343879 | ||
Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin | Q41370821 | ||
Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI. | Q42662282 | ||
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects | Q42736046 | ||
The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: findings from an Australian population | Q44593803 | ||
BRAF mutations are common somatic events in melanocytic nevi | Q47978923 | ||
Protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo. | Q50582773 | ||
Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen. | Q53151796 | ||
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. | Q54505431 | ||
Lack of BRAF(V600E) mutations in giant congenital melanocytic nevi in a Chinese population. | Q54601653 | ||
Mutational analysis of the BRAF gene in human congenital and dysplastic melanocytic naevi. | Q54641558 | ||
Association between the germline MC1R variants and somatic BRAF/NRAS mutations in melanoma tumors. | Q54655331 | ||
Differential roles of the pRb and Arf/p53 pathways in murine naevus and melanoma genesis. | Q54655468 | ||
Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi-results from the NYU-LCMN registry | Q59228971 | ||
Giant pigmented nevus occurring in one identical twin | Q70674756 | ||
Familial site-specific congenital melanocytic nevus: report of two families | Q72114158 | ||
Giant congenital melanocytic nevi, neurocutaneous melanosis and neurological alterations | Q73732517 | ||
Chromosomal translocations as a mechanism of BRAF activation in two cases of large congenital melanocytic nevi | Q79777475 | ||
MC1R germline variants confer risk for BRAF-mutant melanoma | Q79815917 | ||
Measuring congenital melanocytic nevi | Q79913246 | ||
Asymptomatic neurocutaneous melanocytosis in patients with large congenital melanocytic nevi: a study of cases from an Internet-based registry | Q81535134 | ||
Complications of congenital melanocytic naevi in children: analysis of 16 years' experience and clinical practice | Q81727876 | ||
The face in congenital melanocytic nevus syndrome | Q83719724 | ||
Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia | Q84510757 | ||
P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | Neurocutaneous melanosis | Q11777035 |
congenital disorder | Q727096 | ||
P304 | page(s) | 2229-2236 | |
P577 | publication date | 2013-02-07 | |
P1433 | published in | Journal of Investigative Dermatology | Q3186921 |
P1476 | title | Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS | |
P478 | volume | 133 |
Q53105517 | A mutation in the Cdon gene potentiates congenital nevus development mediated by NRAS(Q61K). |
Q97530579 | A six-attribute classification of genetic mosaicism |
Q64912761 | A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. |
Q30661575 | Acute Inhibition of MEK Suppresses Congenital Melanocytic Nevus Syndrome in a Murine Model Driven by Activated NRAS and Wnt Signaling |
Q54303127 | BRAF mutations are also associated with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi. |
Q33731436 | Biologically distinct subsets of nevi |
Q47857589 | CSF cytology diagnosis of NRAS-mutated primary leptomeningeal melanomatosis with neurocutaneous melanosis. |
Q38285394 | Case reports of fatal or metastasizing melanoma in children and adolescents: a systematic analysis of the literature |
Q36532989 | Classification of neurological abnormalities in children with congenital melanocytic naevus syndrome identifies magnetic resonance imaging as the best predictor of clinical outcome |
Q103020082 | Clinical Follow Up of Patients with Neurocutaneous Melanosis in a Tertiary Center; Proposed Modification in Diagnostic Criteria |
Q44490396 | Clonogenic cell subpopulations maintain congenital melanocytic nevi |
Q36636018 | Coexpression of SOX10/CD271 (p75(NTR)) and β-Galactosidase in Large to Giant Congenital Melanocytic Nevi of Pediatric Patients. |
Q40281674 | Congenital nevi versus metastatic melanoma in a newborn to a mother with malignant melanoma - diagnosis supported by sex chromosome analysis and Imaging Mass Spectrometry |
Q42329085 | Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma |
Q38166789 | Cutaneous manifestations in Costello and cardiofaciocutaneous syndrome: report of 18 cases and literature review |
Q38920680 | Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment. |
Q47299130 | DNA terminal structure-mediated enzymatic reaction for ultra-sensitive discrimination of single nucleotide variations in circulating cell-free DNA. |
Q90066713 | Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis |
Q90484210 | Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort |
Q92180963 | Does the gene matter? Genotype-phenotype and genotype-outcome associations in congenital melanocytic naevi |
Q35419895 | Druggable targets in pediatric neurocutaneous melanocytosis: Molecular and drug sensitivity studies in xenograft and ex vivo tumor cell culture to identify agents for therapy |
Q54445149 | Early T-Cell Precursor Acute Lymphoblastic Leukemia in an Infant With an NRAS Q61R Mutation and Clinical Features of Juvenile Myelomonocytic Leukemia. |
Q91770898 | Epilepsy in isolated parenchymal neurocutaneous melanosis: A systematic review |
Q64076968 | Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies |
Q21195751 | Experimental treatment of NRAS-mutated neurocutaneous melanocytosis with MEK162, a MEK-inhibitor |
Q42329782 | Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome |
Q92223383 | GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis |
Q28085036 | Genetics of melanocytic nevi |
Q33701435 | Genomic analysis and clinical management of adolescent cutaneous melanoma |
Q48169062 | Genomic analysis of a case of agminated Spitz nevi and congenital-pattern nevi arising in extensive nevus spilus. |
Q90599468 | Giant melanocytic nevi and soft tissue undergrowth in the left leg: Pathogenetic hypothesis |
Q37412201 | Giant melanocytic nevi with neurocutaneous melanosis masquerading as neurofibromas |
Q36532499 | Growth and hormone profiling in children with congenital melanocytic naevi |
Q60035411 | Hiding in Plain Sight: Molecular Genetics Applied to Giant Congenital Melanocytic Nevi |
Q38192727 | How, and from which cell sources, do nevi really develop? |
Q42871161 | Immunohistochemical and ultrastructural features of congenital melanocytic naevus cells support a stem-cell phenotype |
Q48825550 | Increase in NRAS mutant allele percentage during metastatic melanoma progression |
Q42316796 | Infantile haemangiomas do not occur more frequently in children with congenital melanocytic naevi |
Q43132421 | Insulin-like growth factor 1 receptor signaling via Akt: a general therapeutic target in neurocutaneous melanocytosis? |
Q33577613 | MEK inhibition appears to improve symptom control in primary NRAS-driven CNS melanoma in children |
Q47769824 | Making a mountain out of a molehill: NRAS, mosaicism, and large congenital nevi |
Q33835568 | Melanoma in congenital melanocytic naevi. |
Q92264924 | Molecular pathology of tumors of the central nervous system |
Q36716705 | Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. |
Q50422507 | Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy |
Q37406418 | Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia |
Q36095004 | Mutational status of naevus-associated melanomas. |
Q43729298 | Mutations in g protein encoding genes and chromosomal alterations in primary leptomeningeal melanocytic neoplasms. |
Q54239316 | NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi. |
Q36083348 | NRAS(Q61K) mutated primary leptomeningeal melanoma in a child: case presentation and discussion on clinical and diagnostic implications |
Q88869535 | Neurocristopathies: New insights 150 years after the neural crest discovery |
Q28070020 | Neurocutaneous Manifestations of Genetic Mosaicism |
Q64241169 | Neurocutaneous Melanosis in Association With Large Congenital Melanocytic Nevi in Children: A Report of 2 Cases With Clinical, Radiological, and Pathogenetic Evaluation |
Q48325998 | Neurocutaneous melanocytosis, hemimegalencephaly and large ovarian cyst in a newborn |
Q89282709 | Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update |
Q39211838 | Nevospheres from neurocutaneous melanocytosis cells show reduced viability when treated with specific inhibitors of NRAS signaling pathway |
Q90733538 | New insights into neurocutaneous melanosis |
Q42882004 | Next-generation sequencing of nevus spilus-type congenital melanocytic nevus: exquisite genotype-phenotype correlation in mosaic RASopathies. |
Q34402363 | Oncogenic codon 13 NRAS mutation in a primary mesenchymal brain neoplasm and nevus of a child with neurocutaneous melanosis. |
Q47818895 | Pathology and genomics of pediatric melanoma: A critical reexamination and new insights. |
Q38646135 | Pediatric Melanoma and Atypical Melanocytic Neoplasms. |
Q36964282 | Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome? |
Q38583968 | Pigmented Lesions of the Nervous System and the Neural Crest: Lessons From Embryology |
Q38297995 | Primary melanocytic tumors of the central nervous system: a review with focus on molecular aspects |
Q42067848 | Reduced H3K27me3 Expression Is Common in Nodular Melanomas of Childhood Associated With Congenital Melanocytic Nevi But Not in Proliferative Nodules |
Q36466870 | SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas |
Q40180779 | Skin of patients with large/giant congenital melanocytic nevi shows increased mast cells |
Q38764368 | Somatic driver mutations in melanoma. |
Q53209256 | Somatic mosaicism: on the road to cancer. |
Q53150017 | Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. |
Q53302554 | The categories of cutaneous mosaicism: A proposed classification. |
Q93270879 | The duality of human oncoproteins: drivers of cancer and congenital disorders |
Q43163168 | The genomic landscape of childhood and adolescent melanoma. |
Q36798179 | The molecular pathology of melanoma: an integrated taxonomy of melanocytic neoplasia |
Q48302604 | The patterns of birthmarks suggest a novel population of melanocyte precursors arising around the time of gastrulation. |
Q55140325 | Update on Genetic Conditions Affecting the Skin and the Kidneys. |
Q34928118 | Update on Molecular Pathology of Cutaneous Melanocytic Lesions: What is New in Diagnosis and Molecular Testing for Treatment? |
Q39755837 | Varying proliferative and clonogenic potential in NRAS-mutated congenital melanocytic nevi according to size |
Q45737921 | What’s new in pediatric dermatology? |
Q52876437 | [How frequently does genetic mosaicism occur in the skin?]. |
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