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。Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported
Victoria Huckstadt et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)
Tumor Suppressors Having Oncogenic Functions: The Double Agents
Neerajana Datta et al.
CELLS (2021)
Cafe au Lait Macules and Associated Genetic Syndromes
Sharon Anderson
JOURNAL OF PEDIATRIC HEALTH CARE (2020)
Neuropsychological outcomes of children with Optic Pathway Glioma
Chiara Papini et al.
SCIENTIFIC REPORTS (2020)
Juvenile myelomonocytic leukemia: who's the driver at the wheel?
Charlotte M. Niemeyer et al.
BLOOD (2019)
Aggressive desmoid fibromatosis in Kabuki syndrome: Expanding the tumor spectrum
Marcello Scala et al.
PEDIATRIC BLOOD & CANCER (2019)
PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature
William L. Macken et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)
The Diagnosis and Management of Neurofibromatosis Type 1
K. Ina Ly et al.
MEDICAL CLINICS OF NORTH AMERICA (2019)
Carney Complex
Crystal D. C. Kamilaris et al.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2019)
A Pilot Study of Aberrant CpG Island Hypermethylation of SPRED1 in Acute Myeloloid Leukemia
Jingwen Sun et al.
INTERNATIONAL JOURNAL OF MEDICAL SCIENCES (2019)
Optic Pathway Gliomas in Neurofibromatosis Type 1
Cynthia J. Campen et al.
JOURNAL OF CHILD NEUROLOGY (2018)
Benign and malignant tumors in Rubinstein-Taybi syndrome
Max V. Boot et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2018)
High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Illja J. Diets et al.
CLINICAL CANCER RESEARCH (2018)
Neurocutaneous Melanosis in an Adult Patient with Intracranial Primary Malignant Melanoma: Case Report and Review of the Literature
Mian Ma et al.
WORLD NEUROSURGERY (2018)
Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia
Sharissa L. Latham et al.
NATURE COMMUNICATIONS (2018)
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families
Mary Beth Campbell et al.
COLD SPRING HARBOR MOLECULAR CASE STUDIES (2018)
JMML genomics and decisions
Charlotte M. Niemeyer
HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2018)
Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome
Paola Cianci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex
Hilaire C. Lam et al.
JOURNAL OF PATHOLOGY (2017)
Diagnosis and management of Silver-Russell syndrome: first international consensus statement
Emma L. Wakeling et al.
NATURE REVIEWS ENDOCRINOLOGY (2017)
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene
Tatiana Piqueres-Zubiaurre et al.
PEDIATRIC DERMATOLOGY (2017)
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
Jerome Stirnemann et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
CNS Tumors in Neurofibromatosis
Jian Campian et al.
JOURNAL OF CLINICAL ONCOLOGY (2017)
Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review
Michael B. Bober et al.
CURRENT OSTEOPOROSIS REPORTS (2017)
Ataxia-telangiectasia: recommendations for multidisciplinary treatment
Nienke J. H. van Os et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2017)
Ullrich-Turner Syndrome and Tumor Risk: Is There Another Chance to Early Gonadectomy in Positive TSPY and SRY Patients?
Massimiliano Silveri et al.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY (2016)
Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool
Marjolijn C. J. Jongmans et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2016)
Molecular screening strategies for NF1-like syndromes with cafe-au-lait macules
Jia Zhang et al.
MOLECULAR MEDICINE REPORTS (2016)
Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis
Jesse Lee Kresak et al.
JOURNAL OF PEDIATRIC GENETICS (2016)
Noonan Syndrome-Like Disorder with Loose Anagen Hair: A Second Case with Neuroblastoma
Livia Garavelli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Mosaic Neurocutaneous Disorders and Their Causes
Martino Ruggieri et al.
SEMINARS IN PEDIATRIC NEUROLOGY (2015)
SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia
E. Pasmant et al.
ONCOGENE (2015)
Overgrowth Syndromes
Andrew C. Edmondson et al.
JOURNAL OF PEDIATRIC GENETICS (2015)
Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients
R. Bhargava et al.
AMERICAN JOURNAL OF NEURORADIOLOGY (2014)
Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism
E. Trevisson et al.
CLINICAL GENETICS (2014)
Proteus syndrome review: molecular, clinical, and pathologic features
M. Michael Cohen
CLINICAL GENETICS (2014)
The RASopathies
Katherine A. Rauen
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 14 (2013)
Cancer in Noonan, Costello, Cardiofaciocutaneous and LEOPARD Syndromes
Christian P. Kratz et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2011)
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
Marjolijn C. J. Jongmans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2011)
Multiple, Unilateral Lisch Nodules in the Absence of Other Manifestations of Neurofibromatosis Type 1
E. G. Adams et al.
CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE (2011)
Germline Mosaicism in Neurofibromatosis Type 1 Due to a Paternally Derived Multi-Exon Deletion
Irene Bottillo et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
NF1 Exon 22 Analysis of Individuals With the Clinical Diagnosis of Neurofibromatosis Type 1
Talia M. Muram-Zborovski et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
The Diagnostic and Clinical Significance of Cafe-au-lait Macules
Kara N. Shah
PEDIATRIC CLINICS OF NORTH AMERICA (2010)
Neurofibromatosis type 1
Kevin P. Boyd et al.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY (2009)
Tumor microenvironment and neurofibromatosis type I: connecting the GAPs
L. Q. Le et al.
ONCOGENE (2007)
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
Rosalie E. Ferner et al.
JOURNAL OF MEDICAL GENETICS (2007)
Johanson-Blizzard syndrome: Autopsy findings with special emphasis on hypopituitarism and review of the literature
William H. Hoffman et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2007)
Neurofibromatosis type 1 and sporadic optic gliomas
S Singhal et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2002)
Use of the National Institutes of Health Criteria for diagnosis of neurofibromatosis 1 in children
K DeBella et al.
PEDIATRICS (2000)
分享论文
