Dominant-negative kinase domain mutations inFGFR1can explain the clinical severity of Hartsfield syndrome

The Fibroblast Growth Factor signaling pathway

(2015) David M. Ornitz et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Novel de novo heterozygousFGFR1mutation in two siblings with Hartsfield syndrome: A case of gonadal mosaicism

(2014) Radhika Dhamija et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys

(2014) Iskra T. Peltekova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Childhood growth of females with Kallmann syndrome andFGFR1mutations

(2014) Matti Hero et al.   CLINICAL ENDOCRINOLOGY

Genetics of congenital hypogonadotropic hypogonadism in Denmark

(2014) Johanna Tommiska et al.   European Journal of Medical Genetics

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

(2014) Carine Villanueva et al.   GENETICS IN MEDICINE

An Integrated Holo-Enhancer Unit Defines Tissue and Gene Specificity of the Fgf8 Regulatory Landscape

(2013) Mirna Marinić et al.   DEVELOPMENTAL CELL

FGFR1mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly

(2013) Nicolas Simonis et al.   JOURNAL OF MEDICAL GENETICS

NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

(2011) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The molecular genetics of holoprosencephaly

(2010) Erich Roessler et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Duplication of fgfr1 Permits Fgf Signaling to Serve as a Target for Selection during Domestication

(2009) Nicolas Rohner et al.   CURRENT BIOLOGY

FGF signaling is strictly required to maintain early telencephalic precursor cell survival

(2009) H. Paek et al.   DEVELOPMENT

Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

(2009) Taneli Raivio et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Fibroblast Growth Factor 8 Signaling through Fibroblast Growth Factor Receptor 1 Is Required for the Emergence of Gonadotropin-Releasing Hormone Neurons

(2008) Wilson C. J. Chung et al.   ENDOCRINOLOGY

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

(2008) John Falardeau et al.   JOURNAL OF CLINICAL INVESTIGATION

The genetics of early telencephalon patterning: some assembly required

(2008) Jean M. Hébert et al.   NATURE REVIEWS NEUROSCIENCE