The Gale encyclopedia of genetic disorders / Brigham Narins, editor.

Format:

Book

Author/Creator:

NARINS, BRIGHAM

Contributor:

Narins, Brigham, 1962- editor.

Gale Virtual Reference Library

Rosengarten Family Fund.

Language:

English

Subjects (All):

Genetic disorders--Encyclopedias.

Genetic disorders.

Diseases--Encyclopedias.

Diseases.

Medical genetics.

Genetics, Medical.

Genetic Diseases, Inborn.

Genetic Predisposition to Disease.

Medical Subjects:

Genetics, Medical.

Genetic Diseases, Inborn.

Genetic Predisposition to Disease.

Physical Description:

1 online resource (3 volumes (xxiv, 2296 pages)) : color illustrations

Edition:

Fifth edition.

Place of Publication:

Farmington Hills, Michigan : Gale, [2022]

Contents:

18p deletion syndrome

18q deletion syndrome

22q11.2 deletion syndrome

22q13 deletion syndrome

3-M syndrome

3-Methylglutaconic aciduria type 2

3D organoid biosystems

46,XX testicular disorder of sex development

Aarskog syndrome

Abetalipoproteinemia

Absence of vas deferens

Accutane embryopathy

Aceruloplasminemia

Achondroplasia

ACHOO syndrome

Acrocallosal syndrome (ACLS), Schnizel type, Joubert syndrome, and related disorders

Acromegaly

Adams-Oliver syndrome

Adaptive immunity

Adelaide-type craniosynostosis

Adenylosuccinate lyase deficiency

Adrenoleukodystrophy

Agensis of the corpus callosum

Aicardi syndrome

ALA dehydratase deficiency

Alagille syndrome

Albinism

Alcoholism

Alexander disease

Alkaptonuria

Alpha thalassemia

Alpha-1 antitrypsin deficiency

Alpha-thalassemia X-linked intellectual disability syndrome

Alport syndrome

Alström syndrome

Alzheimer's disease

Ambiguous genitalia

Amelia

Amelogenesis imperfecta

Amniocentesis

Amyloidosis

Amyotrophic lateral sclerosis

Androgen insensitivity syndrome

Anencephaly

Angelman syndrome

Ankylosing spondylitis

Apert syndrome

Arginase deficiency

Arnold-Chiari malformation

Arthrogryposis multiplex congenita

Arthropathy-camptodactyly syndrome

Asperger syndrome

Asplenia

Asthma

Astrocytoma

Ataxia-Telangiectasia

Attention deficit hyperactivity disorder

Atypical Singleton-Merten syndrome

Autism spectrum disorders

Autologous germline mitochondrial transfer

Autosomal dominant multiple pterygium syndrome

AUTS2 syndrome

Bardet-Biedl syndrome

Base editing

Beare-Stevenson cutis gyrata syndrome

Beckwith-Wiedemann syndrome

Beta thalaseemia

Bicuspid aortic valve

Biotinidase deficiency

Bipolar disorder

Birt-Hogg-Dubé syndrome

Bloom syndrome

Blue rubber bleb nevus syndrome

Brachydactyly

Branchiootorenal (BOR) syndrome

Breast cancer

Bruton agammaglobulinemia

Campomelic dysplasia

Camurati-Engelmann disease

Canavan disease

Cancer

Cancer genetics

Cardiofaciocutaneous syndrome

Carnitine palmitoyltransferase deficiency

Carpenter syndrome

Caudal dysplasia

CECR1 gene-recurrent fevers and strokes in children

Celiac disease

Cell-free DNA test

Cenani-Lenz syndrome

Central core disease

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Cerebral palsy

Channelopathies

Charcot-Marie-Tooth disease

CHARGE syndrome

Chediak-Higashi syndrome

Chondrodysplasia punctata

Chondrosarcoma

CHOPS syndrome

Chorionic villus sampling

Choroideremia

Chromosomal abnormalities

Chromosome

Cleft lip and palate

Cleidocranial dysplasia

Clubfoot

Cockayne syndrome

CODAS syndrome

Coffin-Lowry syndrome

Coffin-Siris syndrome

Cohen syndrome

Cole-Carpenter syndrome

Colitis

Collagenopathy, types II and XI

Coloboma

Color blindness

Combined pituitary hormone deficiency

Computational genomics

Cone-rod dystrophy

Congenital adrenal hyperplasia

Congenital contractural arachnodactyly

Congenital heart disease

Congenital hypothyroid syndrome

Congenital microcoria

Conjoined twins

Connectome genetics

Corneal dystrophy

Cornelia de Lange syndrome

Costello syndrome

Cowden syndrome

Crane-Heise syndrome

Craniofacial microsomia

Craniosynostosis

Creutzfeldt-Jakob disease

Cri du chat syndrome

Crispr/Cas

Crohn's disease

Crouzon syndrome

Courzonodermoskeletal syndrome

Cystic Fibrosis

Cystinosis

Cystinuria

Dandy-Walker malformation

De novo

Dementia, hereditary forms

Dent disease

Dentatorubral-pallidoluysian atrophy

Depression

Diabetes

Diamond-Blackfan anemia

Diastrophic dysplasia

Direct-to-consumer genetic testing

Disorders of sex development (DSD)

DNA (deoxyribonucleic acid)

DNA methylation

Donohue syndrome

Down syndrome

Dubowitz syndrome

Duchenne and Becker muscular dystrophy

Dyschondrosteosis

Dysplasia

Dystonia

Ectodermal dysplasia

Ectrodactyly-ectodermal dysplasia-clefting syndrome

Edwards syndrome

Ehlers-Danlos syndrome

Ellis-van Creveld syndrome

Emery-Dreifuss muscular dystrophy

Encephalocele

Epidermolysis bullosa

Epigenetic inheritance

Epigenome

Epilepsy

Erythropoietic porphyria

Erythropoietic protoporphyria

Essential hypertension

Essential tremor

Ex vivo lentiviral gene therapies

Exome sequencing

Expanded carrier screening (ECS)

Fabry disease

Facioscapulohumeral muscular dystrophy

Factor V Leiden thrombophilia

Familial adenomatous polyposis

Familial dysautonomia

Familial idiopathic basal ganglia calcification

Familial lipoprotein lipase deficiency

Familial Mediterranean fever

Fanconi anemia

Fanconi-Bickel syndrome

Feingold syndrome

Fetal alcohol spectrum disorders

FG syndrome

Fibroblast growth factor receptor-related conditions

First-trimester pregnancy screening

Fluorescent in situ hybridization

Focal dermal hypoplasia

Fragile X syndrome

Fraser syndrome

Freeman-Sheldon syndrome

Friedreich ataxia

Frontonasal dysplasia

Frontotemporal dementia

Fryns syndrome

Galactosemia

Galactosialidosis

Gamete donor anonymity

Gastric cancer

Gastroschisis

Gaucher disease

Gene

Gene editing

Gene fusion

Gene mutations

Gene panel testing

Gene pool

Gene regulatory networks

Gene therapy

Genetic anthropology

Genetic counseling

Genetic disorders

Genetic gain

Genetic Information Nondiscrimination Act (GINA)

Genetic mapping

genetic testing

Genetics and congenital anomalies

Genome

Genome sequencing

Genome- and epigenome-wide association studies

Genomic medicine

Genotype and phenotype

Genotype tissue expression project (GTEx)

Germline genome editing

Germline mosaicism

Giant congenital melanocytic nevus

Glanzmann thrombasthenia nevus

Glycine encephalopathy

Glycogen storage diseases

GM1-gangliosidosis

Greig cephalopolysyndactyly

Griscelli syndrome

Haim-Munk syndrome

Hair loss syndromes

Hallermann-Streiff syndrome

Hand-foot-genital syndrome

Harlequin ichthyosis

HeLa cells

Hemihypertrophy (Hemihyperplasia)

Hemochromatosis

Hemolytic-uremic syndrome

Hemophilia

Hepatocellular carcinoma

Herceptin

Hereditary angioneurotic edema

Hereditary colorectal cancer

Hereditary coproporphyria

Hereditary desmoid disease

Hereditary hearing loss and deafness

Hereditary hemorrhagic telangiectasia

Hereditary hypertrophic cardiomyopathy

Hereditary multiple osteochondromas

Hereditary neuropathy with liability to pressure palsies

Hereditary pancreatitis

Hereditary spastic paraplegia

Hereditary spherocytosis

Hermansky-Pudlak syndrome

Hirschsprung disease

Holoprosencephaly

Holt-Oram syndrome

Homocystinuria

Human Genome Project

Huntington's disease

Hutchinson-Gilford progeria syndrome

Hydrocephalus

Hydrolethalus syndrome 1 (HLS1)

Hydrops fetalis

Hyperphenylalaninemia

Hypochondrogenesis

Hypochondroplasia

Hypophosphatasia

Hypophosphatemia

Hypospadias and epispadias

Ichthyosis

Imprinting

Incontinentia pigmenti

Infertility

Inheritance

Inherited arrhythmia

Jackson-Weiss syndrome

Jacobsen syndrome

Jervell and Lange-Nielsen syndrome

Joubert syndrome

Kabuki syndrome

Kallmann syndrome

Karyomapping

Karyotype

Keppen-Lubinsky syndrome

Klinefelter syndrome

Klippel-Feil syndrome

Klippel-Trenaunay-Weber syndrome

Kniest dysplasia

Krabbe disease

L1 syndrome

Langer-Saldino achondrogenesis

Larsen syndrome

Laterality sequence

Leber congenital amaurosis

Leber hereditary optic atrophy

Leigh Syndrome

Lesch-Nyhan syndrome

Leukodystrophy

Li-Fraumeni syndrome

Limb-girdle muscular dystrophy

Liquid biopsy

Lissencephaly

Long QT syndrome

Lowe oculocerebrorenal syndrome

Lupus

Lynch syndrome

Macular degeneration-age-related

Major histocompatibility complex

Male infertility

Malignant hyperthermia

Mannosidosis

Marfan syndrome

Marshall syndrome

Marshall-Smith syndrome

MCAD deficiency

McCune-Albright syndrome

McKusick-Kaufman syndrome

Meckel's diverticulum

Meckel-Gruber syndrome

Melanoma

Menkes syndrome

Metaphyseal dysplasia

Methemoglobinemia, beta-globin type

Methylenetetrahydrofolate reductase variant (MTHFR gene variant)

Methylmalonic acidemia

Micro syndrome

Microbiome

Microcephaly

Microcephaly and hypomyelination

Microcephaly with spastic diplegia

Microdeletion and microdeletion syndromes

Miller-Dieker syndrome

Mitochondrial disease

Mitochondrial replacement therapy (MRT)

Moebius syndrome

Monosomy 1p36 syndrome

Mowat-Wilson syndrome

Moyamoya

mRNA vaccine technology

Mucolipidosis

Mucopolysaccharidoses

Muir-Torre syndrome

Multifactorial inheritance

Multiple endoncrine neoplasia

Multiple epiphyseal dysplasia

Multiple lentigines syndrome

Multiple sclerosis

Multiplex ligation-dependent probe amplification

Muscular dystrophy

Mutations (on-target and off-target)

Myasthenia gravis

MYH9-related disorders

Myopia

Myotonia congenita

Myotonic dystropy

Myotubular myopathy

Nail-patella syndrome

Nance-Insley syndrome

Narcolepsy

Nephrogenic diabetes insipidus

Neu-Laxova syndrome

Neural tube defects

Neurofibromatosis

Neuronal ceroid lipofuscinoses

Nevoid basal cell carcinoma

Next-generation sequencing

NGLY1 deficiency

Niemann-Pick disease

Nijmegen breakage syndrome

Noninvasive prenatal screening

Noonan syndrome

Norrie disease

Nucleic acid therapies

Obesity.

Oculodentodigital syndrome

Oligohydramnios sequence

Omphalocele

Oncogene

Opitz syndrome

Oral-facial-digital syndrome

Organic acidemias

Omithine transcarbamylase deficiency

Osteoarthritis

Osteogenesis imperfecta

Osteoporosis

Osteosarcoma

Otopalatodigital syndrome

Ovarian cancer

Pallister-Hall syndrome

Pallister-Killian syndrome

Pancreatic beta cell agenesis

Pancreatic cancer

Panic disorder

Pantothenate kinase-associated neurodegeneration

Parkes Weber syndrome

Parkinson's disease

Paroxysmal nocturnal hemoglobinuria

Patent ductus arteriosus

Pedigree analysis

Pelizaeus-Merzbacher disease

Pendred syndrome

Pervasive development disorders

Peutz-Jeghers syndrome

Pfeiffer syndrome

Pharmacogenetics

Pharmacogenomics

Phenylketonuria (PKU)

Pierre-Robin sequence

Poland anomaly

Polycystic ovary syndrome

Polydactyly

Polygenic risk scoring

Pompe disease

Pontocerebellar hypoplasia (PCH)

Porphyrias

Prader-Willi syndrome

Preimplantation genetic diagnosis

Prenatal ultrasound

Primary ciliary dyskinesia

Primary familial brain calcification

Primordial dwarfism

Prion diseases

Propionic acidemia

Prostate cancer

Protein C deficiency

Protein S deficiency

Proteus syndrome

PRPS1 gene mutation

progessive hearing loss

Prune-belly syndrome

Pseudo-Gaucher disease

Pseudoachondroplasia

Pseudoxanthoma elasticum

PTSD (post-traumatic stress disorder)

Pulmonary arterial hypertension

Pyloric stenosis

Pyruvate carboxylase deficiency

Pyruvate dehydrogenase complex deficiency

Pyruvate kinase deficiency

Race and genetics

Raynaud's disease

Recurrence risk counseling

Refsum disease

Renal agenesis

Renal failure due to hypertension

Renal-hepatic ciliopathy

Renpenning syndrome

Retinitis pigmentosa

Retinoblastoma

Rett syndrome

Rheumatoid arthritis

Rhizomelic chondrodysplasia punctata

Rhodopsin

Rieger syndrome

RNA (Ribonucleic acid)

Roberts SC phocomelia

Robinow syndrome

Rothmund-Thomson syndrome

Rubinstein-Taybi syndrome

Russell-Silver syndrome

Saethre-Chotzen syndrome

Schinzel-Giedion syndrome

Schizophrenia

Schwartz-Jampel syndrome

Scleroderma

Sclerosing bone dysplasias

Scoliosis

Seckel syndrome

Selfish gene theory

Septo-optic dysplasia

Severe combined immunodeficiency

Short-rib thoracic dysplasia with or without polydactyly

Shprintzen-Goldberg craniosynostosis syndrome

Sialidosis

Sickle cell disease

Simpson-Golabi-Behmel syndrome

Single genome sequencing

Sirenomelia

Sjörgen-Larsson syndrome

Skeletal dysplasia

Smith-Fineman-Myers syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Sotos syndrome

SPARCA1 spectrin-associated autosomal recessive cerebellar ataxia type 1

Spastic cerebral palsy

Spina bifida

Spinal and bulbar muscular atrophy

Spinal muscular atrophy

Spindle transfer technique

Spinocerebellar ataxia

Spinocerebellar ataxia 3

Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia congenita

SRY (sex-determining region Y)

Stargardt disease

Stem cells

Steroid-resistant nephrotic syndrome type 2/galoway-Mowat syndrome

Stickler syndrome

Sturge-Weber syndrome

Super Enhancers (SE)

SWI/SNF-related autism syndrome

Tangier disease

TAR syndrome

Tay-Sachs disease

Teratogen

Thalidomide embryopathy

Thanatophoric dysplasia

Thoracic aortic aneurysms

Thyroid hormone resistance syndrome

Tourette syndrome

Treacher Collins syndrome

Trichorhinophalangeal syndrome

triosephosphate isomerase deficiency

Triple X syndrome

Triploidy

Trismus-pseudocamptodactyly syndrome

Trisomy 13

Trisomy 8 mosaicism syndrome

Tuberous sclerosis complex

Turner syndrome

Twin reversed arterial perfusion (TRAP) sequence

Urea cycle disorders

Urogenital adysplasia syndrome

Usher syndrome

Van der Woude syndrome

VATER association

Viral variant

Von Hippel-Lindau syndrome von Willebrand disease

Waardenburg syndrome

Walker-Warburg syndrome

Weaver syndrome

Weissenbacher-Zweymuller syndrome

Werner syndrome

Whole-exome and whole-genome sequencing

Williams syndrome

Wilson disease

Wiskott-Aldrich syndrome

Wolf-Hirschhorn syndrome

Wolman disease

X-linked intellectual disability

X-linked severe combined immunodeficiency

X-linked sideroblastic anemia

Xeroderma pigmentosum

XMEN

XXXX Syndrome

XXXXX syndrome

XYY syndrome

YY syndrome

Zebrafish studies

Zellweger spectrum

Zimmermann-Laband syndrome

Zinner syndrome

Zygote.

Notes:

Includes bibliographical references and index.

Electronic reproduction. Farmington Hills, Mich. Available via World Wide Web.

Local Notes:

Acquired for the Penn Libraries with assistance from the Rosengarten Family Fund.

Other Format:

Print version: Gale encyclopedia of genetic disorders.

ISBN:

9780028683942

0028683943

Publisher Number:

99991424234

Access Restriction:

Restricted for use by site license.