Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Radiation exposure from CT scans in childhood and subsequent risk of leukaemia and brain tumours: a retrospective cohort study

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Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

(2012) Leopold Groesser et al.   NATURE GENETICS

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR

(2011) Emily Spencer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of Tankyrase-Mediated Destruction of 3BP2 Is the Underlying Pathogenic Mechanism of Cherubism

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Congenital Fibular Deficiency

(2011) John G. Birch et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion

(2011) Katharina Wimmer et al.   PLoS Genetics

Idiopathic bilateral central giant cell reparative granuloma of jaws: A case report and literature review

(2010) Erkan Orhan et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

The Diagnostic and Clinical Significance of Café-au-lait Macules

(2010) Kara N. Shah   PEDIATRIC CLINICS OF NORTH AMERICA

Clinical and Mutational Spectrum of Neurofibromatosis Type 1–like Syndrome

(2009) Ludwine Messiaen   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Encephalocraniocutaneous lipomatosis

(2009) U Moog   JOURNAL OF MEDICAL GENETICS

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

(2007) Sofie De Schepper et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY