Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
出版年份 2019 全文链接
标题
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies
作者
关键词
-
出版物
Molecular Genetics & Genomic Medicine
Volume -, Issue -, Pages e625
出版商
Wiley
发表日期
2019-03-20
DOI
10.1002/mgg3.625
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Encephalocraniocutaneous Lipomatosis
- (2018) Abhishek Bavle et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Somatic KRAS mutation in an infant with linear nevus sebaceous syndrome associated with lymphatic malformations
- (2017) Jiang Lihua et al. MEDICINE
- Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
- (2016) James T. Bennett et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
- (2016) S. Boppudi et al. CLINICAL GENETICS
- Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): Case report and literature review of low grade gliomas in ECCL
- (2015) Sarah Bieser et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Oculoectodermal syndrome is a mosaic RASopathy associated withKRASalterations
- (2015) Jacqueline D. Peacock et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- A postzygoticNRASmutation in a patient with Schimmelpenning syndrome
- (2015) Yukiko Kuroda et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant
- (2015) Huijun Wang et al. BMC Medical Genetics
- Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases
- (2015) O. Kocak et al. CHILDS NERVOUS SYSTEM
- Novel postzygoticKRASmutation in a Japanese case of epidermal nevus syndrome presenting with two distinct clinical features, keratinocytic epidermal nevi and sebaceous nevi
- (2015) Satomi Igawa et al. JOURNAL OF DERMATOLOGY
- Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum
- (2014) Deniz Aslan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Mosaicism and clinical genetics
- (2014) Nancy B. Spinner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Detecting somatic mosaicism: considerations and clinical implications
- (2014) A.S.A. Cohen et al. CLINICAL GENETICS
- Encephalocraniocutaneous lipomatosis: A case report and review of the literature
- (2014) ShivcharanL Chandravanshi INDIAN JOURNAL OF OPHTHALMOLOGY
- Schimmelpenning Feuerstein-Mims Syndrome with Isolated Enlargement of Left Temporal Lobe
- (2014) Guruprasad Gowdar et al. INDIAN JOURNAL OF PEDIATRICS
- Activating HRAS Mutation in Nevus Spilus
- (2014) Kavita Y. Sarin et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia
- (2013) Young H. Lim et al. HUMAN MOLECULAR GENETICS
- Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell
- (2013) Leopold Groesser et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS
- (2013) Veronica A. Kinsler et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi
- (2013) Jonathan L. Levinsohn et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Secondary neoplasms associated with nevus sebaceus of Jadassohn: A study of 707 cases
- (2013) Munir H. Idriss et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ
- (2013) Matthew D. Shirley et al. NEW ENGLAND JOURNAL OF MEDICINE
- Rhegmatogenous Retinal Detachment and Bilateral Optic Disc Coloboma in Organoid Nevus Syndrome
- (2013) J. Fernando Arevalo et al. JAMA Ophthalmology
- Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
- (2012) Kyle C. Kurek et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mosaic Activating RAS Mutations in Nevus Sebaceus and Nevus Sebaceus Syndrome
- (2012) Bryan K. Sun et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS , which Cause Nevus Sebaceus
- (2012) Jonathan L. Levinsohn et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome
- (2012) Leopold Groesser et al. NATURE GENETICS
- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
- (2012) Jean-Baptiste Rivière et al. NATURE GENETICS
- Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies
- (2011) Liran Horev et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Oculo-ectodermal syndrome: Report of a case with mosaicism for a deletion on Xq12
- (2011) Matthew R. Fickie et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?
- (2011) Elvis Terci Valera et al. CHILDS NERVOUS SYSTEM
- Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review
- (2011) Elena Pavlidis et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2
- (2011) M Fernanda Amary et al. NATURE GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- Somatic mosaicism in healthy human tissues
- (2011) Subhajyoti De TRENDS IN GENETICS
- Genomic and Biological Characterization of Exon 4 KRAS Mutations in Human Cancer
- (2010) M. Janakiraman et al. CANCER RESEARCH
- FGF signalling: diverse roles during early vertebrate embryogenesis
- (2010) K. Dorey et al. DEVELOPMENT
- Peutz-Jeghers syndrome: a systematic review and recommendations for management
- (2010) A. D. Beggs et al. GUT
- Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma
- (2010) F. Bourdeaut et al. JOURNAL OF MEDICAL GENETICS
- Papillary Glioneuronal Tumor Present in a Patient With Encephalocraniocutaneous Lipomatosis: Case Report
- (2010) Ji Hoon Phi et al. NEUROSURGERY
- Encephalocraniocutaneous lipomatosis
- (2009) U Moog JOURNAL OF MEDICAL GENETICS
- Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis
- (2009) María Sol Brassesco et al. JOURNAL OF NEURO-ONCOLOGY
- Sebaceous lesions and their associated syndromes: Part I
- (2009) Daniel B. Eisen et al. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
- Parenchymal brain cysts inSchimmelpenning-Feuerstein-Mims syndrome
- (2009) Mahesh Kamate et al. NEUROLOGY INDIA
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started