NP-Genetics Articles

Article Name

A Review Of Hereditary Colorectal Cancers
Abetalipoproteinemia
Acanthocytosis
Achondroplasia
Acoustic Neuroma (Vestibular Schwannoma)
Acquired Angioedema
Acrodermatitis Enteropathica
Acrokeratoelastoidosis
Acrokeratosis Verruciformis of Hopf
Acute Intermittent Porphyria
Adrenal Hypoplasia
Adult T Cell Leukemia
Aflatoxin Toxicity
Agammaglobulinemia
Aggression In Hypothalamic Hamartoma
Alpers-Huttenlocher Syndrome (AHS, Alper Disease)
Alpha 1 Antitrypsin Deficiency
Alpha 1 Antitrypsin Mutation
Alpha Fetoprotein (AFP, Maternal Serum Alpha Fetoprotein, MSAFP)
Alpha Thalassemia (Hemoglobin H Disease)
Alport Syndrome
Alzheimer Disease
Ambiguous Genitalia And Disorders of Sexual Differentiation
Amniocentesis
Amniotic Fluid Index (AFI)
Amyloid Beta Peptide
Amyotrophic Lateral Sclerosis
Anatomy, Abdomen and Pelvis, Bowman Capsule
Anatomy, Abdomen and Pelvis, Seminal Vesicle
Anatomy, Abdomen and Pelvis, Sigmoid Colon
Anatomy, Bony Pelvis and Lower Limb, Foot
Anatomy, Head and Neck, Eye Iris Sphincter Muscle
Anatomy, Head and Neck, Nasal Cavity
Anatomy, Head and Neck, Tooth Eruption
Anatomy, Thorax, Heart Anomalous Left Coronary Artery
Anatomy, Thorax, Tracheobronchial Tree
Androgen Insensitivity Syndrome
Anemia Screening
Aneurysm, Saccular
Angioid Streaks (Knapp Streaks)
Angiokeratoma Circumscriptum
Anhidrosis
Ankylosing Spondylitis
Aortic Regurgitation
Apert Syndrome
Appendicitis in Pregnancy
Arginase Deficiency (Argininemia)
Arnold Chiari Malformation
Arrhythmogenic Right Ventricular Cardiomyopathy
Ataxia Telangiectasia (Louis-Bar Syndrome)
Atlantoaxial Instability
Atopy
Atrioventricular Canal Defects
Bacterial DNA Mutations
Bartter Syndrome
BAX Gene
Becker Muscular Dystrophy
Beckwith Wiedemann Syndrome
Beevor Sign
Bernard Soulier Syndrome
Biochemistry, Antioxidants
Biochemistry, Ceruloplasmin
Biochemistry, Chylomicron
Biochemistry, Dihydrotestosterone
Biochemistry, DNA Structure
Biochemistry, Dopamine Receptors
Biochemistry, Glycogen
Biochemistry, Glycogenesis
Biochemistry, Glycogenolysis
Biochemistry, HLA Antigens
Biochemistry, Immunoglobulin A (IgA)
Biochemistry, Immunoglobulin M (IgM)
Biochemistry, Ketone Metabolism
Biochemistry, LDL Cholesterol
Biochemistry, Lipoprotein Lipase
Biochemistry, Low Density Lipoprotein
Biochemistry, Melanin
Biochemistry, Merosin
Biochemistry, Presenilin
Biochemistry, Protein Catabolism
Biochemistry, Protein Synthesis
Biochemistry, Pseudogenes
Biochemistry, Replication and Transcription
Biochemistry, RNA Structure
Biochemistry, Superoxides
Biochemistry, Tertiary Structure, Protein
Biochemistry, Tetrahydrofolate
Biochemistry, Ubiquitination
Biochemstry, Fatty Acid Oxidation
Biotin Deficiency
Birdshot Retinopathy
Birt Hogg Dube Syndrome
Bleeding Time
Bloom Syndrome (Congenital Telangiectatic Erythema)
Blue Nevus
BRCA 1 and 2
Breast Cancer
Brown Sequard Syndrome
Brugada Syndrome
Bruton Agammaglobulinemia
C 17 Hydroxylase Deficiency
C1 Esterase Inhibitor Deficiency
Cafe Au Lait Macules
Calcifying Epithelioma of Malherbe (Pilomatrixoma)
Canavan Disease
Cancer Breast Screening
Cancer, Ampullary
Cancer, Angiosarcoma
Cancer, Anorexia and Cachexia
Cancer, Basal Cell
Cancer, Burkitt Lymphoma
Cancer, Cerebellopontine Angle
Cancer, Glomus (Glomangioma)
Cancer, Lung Small Cell (Oat Cell)
Cancer, Myeloproliferative Neoplasms
Cancer, Neuroblastoma
Cancer, Ocular Melanoma
Cancer, Osteosarcoma
Cancer, Papillary Fibroelastoma
Cancer, Renal
Cancer, Renal Cell
Cancer, Retinoblastoma
Cancer, Tumor-Suppressor Genes
Carney Complex
Carnitine Deficiency
Caroli Disease
Cavernous Venous Malformation
Cavum Septum Pellucidum
Celiac Disease
Cerebral Amyloid Angiopathy
Cerebral Autosomal Dominant Arteriopathy (CADASIL)
Cerebral Palsy
CHARGE Syndrome
Chediak Higashi Syndrome
Cherry Red Spot
Chest and Mediastinal Imaging
Chest Wall Deformities
Child Syndrome
Childhood Brain Tumors
Chorea
Chromosome Instability Syndromes
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia)
Cleft Hand (Ectrodactyly, Split Hand)
Clinodactyly
Coarctation of the Aorta
Colon Cancer Screening
Colon Resection
Complement Deficiency
Congenital Adrenal Hyperplasia
Congenital Diaphragmatic Hernia
Congenital Hereditary Endothelial Dystrophy
Congenital Muscular Dystrophy
Congenital Nevus
Cooley Anemia
Corneal Dystrophy
Cornelia de Lange Syndrome
Coronary Artery Anomalies
Cowden Disease (Multiple Hamartoma Syndrome)
Craniosynostosis
Creatine Phosphokinase
Cri Du Chat Syndrome
Crohn Disease
Crouzon Syndrome
Cutis Verticis Gyrata
Cyanotic Heart Disease
Cyclic Neutropenia
Cystic Fibrosis
Cystic Fibrosis And Liver Disease
Cystic Fibrosis Related Diabetes (CFRD)
Danon Disease
Delayed Puberty
Dermal Melanocytosis (Mongolian Spot), Congenital
Dermatosis Papulosa Nigra
Development Milestones
Dextrocardia
Diamond Blackfan Anemia
DiGeorge Syndrome
Dowling Degos Disease
Down Syndrome (Trisomy 21)
Dubin Johnson Syndrome
Duchenne Muscular Dystrophy
Dyskeratosis Congenita
Dystonia
Dystrophinopathies
Early Decelerations
Ehlers Danlos Syndrome
Electrical Alternans
Electrical Status Epilepticus In Sleep (ESES)
Embryology, Atrioventricular Septum
Embryology, Branchial Arches
Embryology, Central Nervous System
Embryology, Central Nervous System, Malformations
Embryology, Ectoderm
Embryology, Esophagus
Embryology, Eye
Embryology, Eye Malformations
Embryology, Gastrulation
Embryology, Kidney, Bladder, and Ureter
Embryology, Mullerian Ducts (Paramesonephric Ducts)
Embryology, Optic Cup
Embryology, Optic Fissure
Embryology, Pharyngeal Pouch
Embryology, Rectum and Anal Canal
Embryology, Sexual Development
Embryology, Wolffian Ducts
Emicizumab
Endocardial Fibroelastosis
Endometrial Cancer
Eosinophilic Granuloma (Histiocytosis X)
Epidermal Inclusion Cyst
Epidermal Nevus Syndromes
Epidermodysplasia Verruciformis
Epidermolysis Bullosa Acquisita
Epidermolytic Hyperkeratosis (Bullous Ichthyosiform Erythroderma)
Eptifibatide
Erlotinib
Erythrocyte Sedimentation Rate (ESR)
Erythromelalgia
Eyelid Coloboma
Fabry Disease
Facioscapulohumeral Muscular Dystrophy (FSHD)
Factor V Leiden Deficiency
Factor XIII Deficiency
Familial Adenomatous Polyposis
Familial Hypercholesterolemia
Familial Hyperlipidemia Type 1
Familial Hyperlipidemia Type 2a
Fanconi Anemia
Fatal Familial Insomnia
Female Development
Fragile X Syndrome
Frontotemporal Lobe Dementia
Fructose 1-Phosphate Aldolase Deficiency (Fructose Intolerance)
Fuchs Endothelial Dystrophy (FED)
GABA Receptor
Galactose 1 Phosphate Uridyltransferase Deficiency (Galactosemia)
Gardner Syndrome
Gaucher Disease
Genetics, Autosomal Dominant
Genetics, Autosomal Recessive
Genetics, Chromosome Abnormalities
Genetics, Chromosomes
Genetics, DNA Damage and Repair
Genetics, DNA Packaging
Genetics, Epigenetic Mechanism
Genetics, Female Gametogenesis
Genetics, Gonadal Dysgenesis
Genetics, Histocompatibility Antigen
Genetics, Histone Code
Genetics, Human Major Histocompatibility Complex (MHC)
Genetics, Meiosis
Genetics, Mosaicism
Genetics, Nondisjunction
Genetics, Somatic Mutation
Genetics, Transposons
Genetics, TREX1 Mutations
Genetics, Trinucleotide
Genetics, X-Linked Inheritance
Giant Cell Tumor
Gilbert Syndrome
Gitelman Syndrome
Glanzmann Thrombasthenia
Gliomas
Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency
Glycogen Storage Disease
Glycogen Storage Disease Type I (Von Gierke Disease)
Glycogen Storage Disease Type II (Pompe Disease)
Good Samaritan Laws
Gorlin Syndrome (Basal Cell Nevus)
Gout (Podagra)
Gower Sign
Gyrate Atrophy Of The Choroid and Retina
Hallervorden Spatz Disease (Pantothenate Kinase-Associated Neurodegeneration, PKAN)
Hartnup Disease
Hearing Loss
Hemarthrosis
Hemiplegic Migraine
Hemochromatosis
Hemoglobin C Disease
Hemolytic Anemia
Hemolytic Diseases Of The Newborn
Hemophilia
Hemophilia A
Hereditary Angioedema
Hereditary Fructose Intolerance
Hereditary Spherocytosis
Histology, Cell
Histology, Cell Death
Histology, Leydig Cells
Histology, Male Urethra
Histology, Myelin
Histology, Osteocytes
Histology, Plasma Cells
Histology, Retina
Histology, Spermatogenesis
Histology, T-Cell Lymphocyte
Histolology, Platelets
Holt Oram Syndrome
Huntington Disease
Hurler Syndrome
Hydranencephaly
Hyperacusis
Hypercalciuria
Hypercholesterolemia
Hyperhomocysteinemia
Hyperphosphatemia
Hypertrichosis
Hypertrophic Cardiomyopathy
Hypokalemic Periodic Paralysis
Hypomelanosis of Ito
Hypophosphatemia
Ichthyosis X-Linked
IgA Nephropathy
Imatinib
Immunophenotyping
Immunotherapy
Impaired Bilirubin Conjugation
Imperforate Anus
Inborn Errors Of Metabolism
Ingrown Toenails
Insulin Resistance
Insulinoma
Intellectual Disability
Iron Overload
Jacobs (XYY) Syndrome
Jervell and Lange Nielsen Syndrome
Job Syndrome (Hyperimmunoglobulin E)
Juvenile Absence Epilepsy
Kallmann Syndrome
Kayser-Fleischer Ring
Keratoendotheliitis Fugax Hereditaria
Klinefelter Syndrome
Klippel Feil Syndrome
Klippel Trenaunay Weber Syndrome
Kuru
Lafora Disease
Lattice Corneal Dystrophy
Laugier-Hunziker Syndrome
Learning Disability
Leber Hereditary Optic Neuropathy (LHON)
Left Ventricular Non-compaction (LVNC) Cardiomyopathy
Lesch Nyhan Syndrome
Leukocyte Adhesion Deficiency
Li-Fraumeni Syndrome
Lipoid Pneumonia
Lipoma
Lisch Nodules
Lung Imaging
Lymphangioma
Lynch Syndrome
Mallory Bodies
Maple Syrup Urine Disease
Marfan Syndrome
Mastocytoma
May Hegglin Anomaly
McCune Albright Syndrome
Medulloblastoma
Microcytic Hypochromic Anemia
Mitral Valve Repair
Monilethrix
Moyamoya Disease
Muir-Torre Syndrome
Multiple Endocrine Neoplasia Type 1 (MEN I, Wermer Syndrome)
Multiple Endocrine Neoplasias, Type 2 (MEN II, Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma, Sipple Syndrome)
Myelodysplastic Syndrome
Myoclonic Epilepsy and Ragged Red Fibers (MERF)
Myotonic Dystrophy
Nail Patella Syndrome
Neuroanatomy, Dentate Nucleus
Neuroanatomy, Lower Motor Neuron Lesion
Neuroanatomy, Neural Crest
Neuroanatomy, Neural Tube Development and Stages
Neuroanatomy, Nucleus Caudate
Neuroanatomy, Touch Receptor
Neuroanatomy, Unmyelinated Nerve Fibers
Neurocutaneous Syndromes
Neurofibroma
Neurofibromatosis
Neurofibromatosis Type 1 (Von Recklinghausen)
Neurofibromatosis Type 2
Neuroma
Nevus Comedonicus
Newborn Screening
Niemann-Pick Disease
Nonketotic Hyperglycinemia
Noonan Syndrome
Oophorectomy
Open Angle Glaucoma
Optic Atrophy
Optic Nerve Glioma
Ornithine Transcarbamylase Deficiency
Osler-Weber-Rendu Disease (Hereditary Hemorrhagic Telangiectasia, HHT)
Osteitis Fibrosa Cystica
Osteochondroma
Osteogenesis Imperfecta
Osteopetrosis
Pancreatic Serous Cystadenoma
Pancrelipase Therapy
Paradoxical Embolism
Patau Syndrome
Pectus Carinatum (Pigeon Chest)
Pediatric Functional Constipation
Pediatric Hearing Loss
Pemphigus Vegetans
Pendred Syndrome
Pentalogy of Cantrell
Pericholangitis
Pernio (Chilblains)
Peutz-Jeghers Syndrome
Pfeiffer Syndrome
PHACE Syndrome
Phenylketonuria
Phenytoin
Phocomelia
Photopic Vision
Physiology, Adenosine Triphosphate (ATP)
Physiology, Adrenal Gland
Physiology, Airway Resistance
Physiology, Bile
Physiology, Brain
Physiology, Cardiovascular Murmurs
Physiology, Cellular Receptor
Physiology, Chorionic Gonadotropin
Physiology, Exocrine Gland
Physiology, Factor V
Physiology, Factor XIII
Physiology, Follicle Stimulating Hormone
Physiology, Gluconeogenesis
Physiology, Gonadotropin Inhibitor
Physiology, Krebs Cycle
Physiology, Lung Capacity
Physiology, Male Reproductive System
Physiology, Membrane
Physiology, Obesity Neurohormonal Appetite And Satiety Control
Physiology, Parathyroid
Physiology, Peristalsis
Physiology, Proteins
Physiology, Puberty
Physiology, Small Bowel
Physiology, Synuclein
Physiology, Thyroid
Physiology, Thyroid Function
Physiology, Urea Cycle
Physiology, Vascular
Piebaldism
Pigmented Villonodular Synovitis
Poikiloderma Congenitale
Poland Syndrome
Polycystic Kidney Disease
Polycystic Kidney Disease Of Childhood
Polycythemia Vera
Polygenic Hypercholesterolemia
Polyglandular Autoimmune Syndrome Type I
Prader-Willi Syndrome
Precocious Puberty
Preconception Counseling
Premature Atrial Contractions (PAC)
Prenatal Genetic Screening
Prenatal Screening
Primary Hyperparathyroidism
Progeria (Werner Syndrome)
Progressive Familial Intrahepatic Cholestasis (Byler Disease)
Protein S and C
Prothrombin Time
Prune Belly Syndrome
Pseudocholinesterase Deficiency
Pseudohypoparathyroidism
Pulmonary Hamartoma
Pulmonary Hypertension
Pure Red Cell Aplasia
Raccoon Sign
Radial Dysplasia (Clubhand)
Radiology, Image Production and Evaluation
Red Reflex
Renal Calculi (Hyperoxaluria, Oxalate, Enteric Hyperoxaluria)
Renal Cyst
Renal Oncocytoma
Research Study
Restrictive (Infiltrative) Cardiomyopathy
Retinal Detachment
Rett Syndrome
Right Aortic Arches
Rotor Syndrome
Seborrheic Keratosis
Short Stature
Shwachman-Diamond Syndrome
Sickle Cell Disease
Sickle Cell Trait
Single Ventricle
Sodium Nitroprusside
Spina Bifida
Spinocerebellar Ataxia
Splenic Sequestration Crisis
Sports Physicals
Steatorrhea
Stentless Autograft/Homograft Aortic Valve Replacement
Sturge-Weber Syndrome
Subacute Necrotizing Encephalomyelopathy (Leigh Syndrome)
Sudden Cardiac Death
Supravalvar Aortic Stenosis (SVAS)
Sweat Testing
Syndactyly
Syndromic Sensorineural Hearing Loss (SSHL)
Syringomyelia
Thalassemia
Thrombin
Thyroxine-Binding Globulin Deficiency
Tort
Tourette Syndrome And Other Tic Disorders
Trinucleotide Repeat Disorders
Trisomy 13
Truncus Arteriosus
Tuberous Sclerosis
Tubular Adenoma
Turcot Syndrome
Turner Syndrome
Unconjugated Hyperbilirubinemia
Urea Cycle Disorders
Vaginal Cancer
Vascular Ring Double Aortic Arch
Vismodegib
Vohwinkel Syndrome
Von Hippel Lindau Syndrome
Werdnig Hoffmann Disease
Western Blot (Protein Immunoblot)
Whipple Disease
Williams Syndrome
Wilms Tumor (Nephroblastoma)
Wilson Disease
Wiskott-Aldrich Syndrome
Xeroderma Pigmentosum
X-linked Agammaglobulinemia
Young Syndrome