Novel FGF8 Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction
Journal Article
Overview
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11-Hydroxycorticosteroids - Hydrocortisone
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17-Hydroxycorticosteroids - Hydrocortisone
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Abnormalities, Multiple - Holoprosencephaly
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Biological Factors - Fibroblast Growth Factor 8
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Biological Science Disciplines - Immunohistochemistry
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Biological Science Disciplines - Immunohistochemistry
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Chemistry - Immunohistochemistry
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Chemistry - Immunohistochemistry
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Congenital Abnormalities - Agenesis of Corpus Callosum
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Congenital Abnormalities - Craniofacial Abnormalities
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Congenital Abnormalities - Holoprosencephaly
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Congenital Abnormalities - Holoprosencephaly
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Congenital Abnormalities - Holoprosencephaly
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Congenital Abnormalities - Septo-Optic Dysplasia
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Congenital Abnormalities - Septo-Optic Dysplasia
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DNA Mutational Analysis
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Diagnostic Techniques and Procedures - Immunohistochemistry
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Diagnostic Techniques and Procedures - Immunohistochemistry
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Diagnostic Techniques and Procedures - In Situ Hybridization
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Diagnostic Techniques and Procedures - In Situ Hybridization
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Diencephalon - Hypothalamo-Hypophyseal System
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Diencephalon - Pituitary Gland
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Endocrine Glands - Pituitary Gland
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Endocrine System - Hypothalamo-Hypophyseal System
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Endocrine System - Pituitary Gland
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Endocrine System Diseases - Pituitary Diseases
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Female
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Genetic Diseases, Inborn - Holoprosencephaly
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Genetic Techniques - In Situ Hybridization
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Histology - Immunohistochemistry
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Hormones, Hormone Substitutes, and Hormone Antagonists - Arginine Vasopressin
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Hormones, Hormone Substitutes, and Hormone Antagonists - Human Growth Hormone
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Hormones, Hormone Substitutes, and Hormone Antagonists - Thyrotropin
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Humans
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Hypothalamic Diseases
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Hypothalamic Diseases - Pituitary Diseases
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Immunologic Techniques - Immunohistochemistry
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Infant
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Investigative Techniques - Immunohistochemistry
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Investigative Techniques - Immunohistochemistry
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Investigative Techniques - In Situ Hybridization
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Investigative Techniques - In Situ Hybridization
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Limbic System - Hypothalamo-Hypophyseal System
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Limbic System - Pituitary Gland
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Magnetic Resonance Imaging
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Musculoskeletal Diseases - Craniofacial Abnormalities
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Musculoskeletal Diseases - Holoprosencephaly
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Mutation
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Nerve Tissue Proteins - Arginine Vasopressin
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Nervous System - Hypothalamo-Hypophyseal System
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Nervous System - Pituitary Gland
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Nervous System Diseases - Agenesis of Corpus Callosum
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Nervous System Diseases - Holoprosencephaly
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Nervous System Diseases - Septo-Optic Dysplasia
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Nervous System Diseases - Septo-Optic Dysplasia
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Oligopeptides - Arginine Vasopressin
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Pathological Conditions, Anatomical - Agenesis of Corpus Callosum
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Peptides - Arginine Vasopressin
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Peptides - Arginine Vasopressin
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Peptides - Fibroblast Growth Factor 8
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Peptides - Human Growth Hormone
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Peptides - Thyrotropin
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Pregnenediones - Hydrocortisone
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Prosencephalon
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Protein-Tyrosine Kinases - Receptor, Fibroblast Growth Factor, Type 1
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Proteins - Fibroblast Growth Factor 8
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Receptors, Cell Surface - Receptor, Fibroblast Growth Factor, Type 1
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Receptors, Fibroblast Growth Factor - Receptor, Fibroblast Growth Factor, Type 1
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Date in CU Experts
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November 10, 2014 1:12 AM
Full Author List
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McCabe MJ; Gaston-Massuet C; Tziaferi V; Gregory LC; Alatzoglou KS; Signore M; Puelles E; Gerrelli D; Farooqi IS; Raza J
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