Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia

Use of somatic mutations to quantify random contributions to mouse development

(2013) Wenyu Zhou et al.   BMC GENOMICS

Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification

(2013) Silje Hjorth Rafaelsen et al.   JOURNAL OF BONE AND MINERAL RESEARCH

In Vivo Overexpression of Tissue-Nonspecific Alkaline Phosphatase Increases Skeletal Mineralization and Affects the Phosphorylation Status of Osteopontin

(2013) Sonoko Narisawa et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Oncogenic Osteomalacia due to FGF23-Expressing Colon Adenocarcinoma

(2013) David E. Leaf et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Coexistence of Congenital Giant Melanocytic Nevus of the Scalp with Cranial Defect, Poliosis, and Hair Loss

(2013) Woo J. Lee et al.   PEDIATRIC DERMATOLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features

(2012) Archana Singal et al.   Indian Journal of Dermatology Venereology & Leprology

Giant Congenital Melanocytic Nevi: A Rare Association with Hypophosphatemic Rickets

(2012) Geeta Gathwala et al.   INDIAN JOURNAL OF PEDIATRICS

Mechanism of FGF23 processing in fibrous dysplasia

(2012) Nisan Bhattacharyya et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Whole-Exome Sequencing Reveals Somatic Mutations in HRAS and KRAS , which Cause Nevus Sebaceus

(2012) Jonathan L. Levinsohn et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Keratinocytic epidermal nevi are associated with mosaicRASmutations

(2012) Christian Hafner et al.   JOURNAL OF MEDICAL GENETICS

Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome

(2012) Leopold Groesser et al.   NATURE GENETICS

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in Mice

(2012) Xiaofang Wang et al.   PLoS Genetics

FGF23 et Klotho : les nouveaux incontournables du métabolisme phosphocalcique

(2011) J. Bacchetta et al.   ARCHIVES DE PEDIATRIE

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

(2011) Jarupon Fah Sathirapongsasuti et al.   BIOINFORMATICS

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene

(2011) Tasuku Saito et al.   BONE

HRASMutation Mosaicism Causing Urothelial Cancer and Epidermal Nevus

(2011) Christian Hafner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Bilateral renal artery stenosis and epidermal nevus syndrome in a child

(2011) Fahad Alsohim et al.   PEDIATRIC NEPHROLOGY

Linear nevus sebaceous syndrome with hypophosphatemic rickets with elevated FGF-23

(2011) Ryo Narazaki et al.   PEDIATRIC NEPHROLOGY

Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

(2010) Varda Levy-Litan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets

(2010) Bettina Lorenz-Depiereux et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Schimmelpenning Syndrome: A Kind of Craniofacial Epidermal Nevus Associated with Cerebral and Ocular MR Imaging Abnormalities

(2010) C. Amato et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Elevated Phosphate Activates N-ras and Promotes Cell Transformation and Skin Tumorigenesis

(2010) C. E. Camalier et al.   Cancer Prevention Research

The McCune-Albright syndrome: a lethal gene surviving by mosaicism

(2010) R. Happle   CLINICAL GENETICS

Failure to Process Dentin Matrix Protein 1 (DMP1) into Fragments Leads to Its Loss of Function in Osteogenesis

(2010) Yao Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Nevus Comedonicus Syndrome-Nevus Comedonicus Associated with Ipsilateral Polysyndactyly and Bilateral Oligodontia

(2010) Feroze Kaliyadan et al.   PEDIATRIC DERMATOLOGY

Elevated FGF-23 and parathormone in linear nevus sebaceous syndrome with resistant rickets

(2010) Sidharth K. Sethi et al.   PEDIATRIC NEPHROLOGY

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene

(2009) Tasuku Saito et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Nuclear Isoforms of Fibroblast Growth Factor 2 Are Novel Inducers of Hypophosphatemia via Modulation of FGF23 and KLOTHO

(2009) Liping Xiao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis

(2008) Holly J. Garringer et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

A novel missense mutation in GALNT3 causing hyperostosis–hyperphosphataemia syndrome.

(2008) Hannes Olauson et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

A Missense Mutation in the Sodium Phosphate Co-transporter Slc34a1 Impairs Phosphate Homeostasis

(2008) T. Iwaki et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A translocation causing increased  -Klotho level results in hypophosphatemic rickets and hyperparathyroidism

(2008) C. A. Brownstein et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA