Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Open Access Articles | Digital Commons Network™Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Open Access Articles | Digital Commons Network™

Open access academic research from top universities on the subject of Congenital, Hereditary, and Neonatal Diseases and ... All Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities Follow Faceted Search 262 full-text articles. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities Commons™ Open Access. Powered by Scholars. Published by ... Congenital heart disease (CHD) is one of the most common birth defects, and recent studies indicate cilia-related mutations ...
more infohttp://network.bepress.com/medicine-and-health-sciences/diseases/congenital-hereditary-and-neonatal-diseases-and-abnormalities/

Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Exposure Studies | CTDCongenital, Hereditary, and Neonatal Diseases and Abnormalities - Exposure Studies | CTD

Children , Controls for disease:Congenital Abnormalities , Subjects with disease:Congenital Abnormalities , Study subjects. ... Children , Controls for disease:Congenital Abnormalities , Subjects with disease:Congenital Abnormalities , Controls for ... Abnormalities, Drug-Induced , Congenital Abnormalities , Skin Abnormalities 10.. Li Z, et al. (2011). Compared with women with ... Controls for disease:Gilbert Disease , Subjects with disease:Gilbert Disease , Study subjects. United States. serum. ...
more infohttp://ctdbase.org/detail.go?type=disease&acc=MESH%3AD009358&view=expStudies

Beckwith-Wiedemann syndrome (Concept Id: C0004903)
 - MedGen - NCBIBeckwith-Wiedemann syndrome (Concept Id: C0004903) - MedGen - NCBI

... renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/ ... is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Developmental abnormality*Congenital chromosomal disease* ... Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that ...
more infohttps://www.ncbi.nlm.nih.gov/medgen?LinkName=pubmed_medgen_bookshelf_cited&from_uid=18668518

Inborn error of metabolism (Concept Id: C0025521)
 - MedGen - NCBIInborn error of metabolism (Concept Id: C0025521) - MedGen - NCBI

Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Inborn genetic diseases*Inborn error of metabolism*Amino Acid ... Hereditary cerebral hemorrhage with amyloidosis*Cerebral amyloid angiopathy, APP-related. *Hereditary cystatin C amyloid ... Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. *Congenital Adrenal Hyperplasia due to Apparent ... Congenital sucrase-isomaltase deficiency with minimal starch tolerance. *Congenital sucrase-isomaltase deficiency with starch ...
more infohttps://www.ncbi.nlm.nih.gov/medgen/?term=D008661

familial mediterranean feverfamilial mediterranean fever

You are here: Research Topics , diseases , and neonatal diseases and abnormalities hereditary congenital , inborn genetic ... Crohn's disease), and inherited recurrent febrile diseases such as the autosomal recessive familial Mediterranean fever ( ... b>Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited ... inflammatory bowl disease, tuberculosis, leprosy, Hodgkin's disease, renal cell carcinoma, and Familial Mediterranean ...
more infohttps://www.labome.org/topics/diseases/and/inborn/familial-mediterranean-fever-8005.html

Adebowale Adeniran, MD > Pathology | Yale School of...Adebowale Adeniran, MD > Pathology | Yale School of...

Congenital, Hereditary, and Neonatal Diseases and Abnormalities. *Neoplasms. *Pathological Conditions, Signs and Symptoms ... Male Urogenital Diseases. Patient Care. Accepts new patients? Yes. Patient Type: Adult; Child; Geriatric. Referrals: From ...
more infohttps://medicine.yale.edu/pathology/people/adebowale_adeniran-3.profile

Thoracic/GU Program > Pathology | Yale School of...Thoracic/GU Program > Pathology | Yale School of...

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Neoplasms; Pathological Conditions, ... Lung Diseases; Male Urogenital Diseases; Neoplasms; Pancreas; Respiratory Tract Diseases Dr. Cai completed his residency in ... Conjunctival Diseases; Corneal Diseases; Endocrine Gland Neoplasms; Eye Neoplasms; Eyelid Diseases; Head and Neck Neoplasms; ... Retinal Diseases; Retroperitoneal Neoplasms; Thoracic Neoplasms; Urogenital Neoplasms; Urologic Diseases; Uveal Diseases ...
more infohttps://medicine.yale.edu/pathology/programs/surgicalpathology/Thoracic-GU/Thoracic-GUpathology.aspx

Allen Everett Bale, MD > Yale Cancer Center | Yale School of...Allen Everett Bale, MD > Yale Cancer Center | Yale School of...

Congenital Abnormalities; DNA; Fanconi Syndrome; Genetics; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; ... Other disease genes under study include MEN1 (multiple endocrine neoplasia type 1) and BRCA1 (the main gene responsible for ... One project in the laboratory arose from studies of the nevoid basal cell carcinoma syndrome (NBCCS), a human genetic disease ... Bale AE: Hedgehog signaling and human disease. Annu Rev Genomics Hum Genet. 2002; 2002 Apr 15. PMID: 12142354 ...
more infohttps://www.yalecancercenter.org/patient/people/allen_bale-2.profile

Program Members > Yale Cancer Center | Yale School of...Program Members > Yale Cancer Center | Yale School of...

Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA; Fanconi Syndrome; Genetics; ... Cell Biology; Genetics, Medical; Human Genome Project; Musculoskeletal Diseases; Skin and Connective Tissue Diseases ... Calcification, Physiologic; Osteoarthropathy, Primary Hypertrophic; Pathology; Pseudoxanthoma Elasticum; Rare Diseases; Sickle ...
more infohttp://yalecancercenter.org/research/programs/genetics/people/

multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly - Ontology Report - Rat Genome...multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly - Ontology Report - Rat Genome...

Developmental Diseases. 8737. Congenital, Hereditary, and Neonatal Diseases and Abnormalities. 7519. genetic disease. 7008. ... Diseases Aging & Age-Related Disease Cancer Cardiovascular Disease Developmental Disease Diabetes Hematologic Disease Immune & ... Inflammatory Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease ... autosomal recessive disease. 1981. multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and ...
more infohttps://rgd.mcw.edu/rgdweb/ontology/annot.html?acc_id=DOID:0080327

Kallmann Syndrome | Harvard Catalyst Profiles | Harvard CatalystKallmann Syndrome | Harvard Catalyst Profiles | Harvard Catalyst

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Urogenital ... It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait. ... Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. J Clin ... It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. ...
more infohttps://connects.catalyst.harvard.edu/Profiles/display/Concept/Kallmann%20Syndrome

Cockayne Syndrome | Harvard Catalyst Profiles | Harvard CatalystCockayne Syndrome | Harvard Catalyst Profiles | Harvard Catalyst

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Congenital Abnormalities [C16.131]. *Abnormalities, ... Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth ... Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. Proc Natl Acad Sci U S A. 2014 Oct 07; ... A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and ...
more infohttps://connects.catalyst.harvard.edu/Profiles/display/Concept/Cockayne%20Syndrome

Waardenburgs Syndrome
      - Waardenburg Syndrome
     Summary Report | CureHunterWaardenburg's Syndrome - Waardenburg Syndrome Summary Report | CureHunter

Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow ... Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. ... autosomal dominant disease with variable penetrance and several known clinical types. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668*Congenital Abnormalities: 15467*Multiple Abnormalities: ...
more infohttp://www.curehunter.com/public/keywordSummaryD014849-Waardenburg-s-Syndrome-Waardenburg-Syndrome.do

Diseases - PrimePCR | Life Science | Bio-RadDiseases - PrimePCR | Life Science | Bio-Rad

Congenital abnormalities. *Congenital hypothyroidism. *Congenital, hereditary, and neonatal diseases and abnormalities panel ... Cardiovascular disease. Congenital, hereditary, and neonatal diseases and abnormalities. *Anemia - Hemolytic. *Anemia - ... Cardiovascular disease. *Congenital, hereditary, and neonatal diseases and abnormalities. *Cystic fibrosis. *Digestive system ...
more infohttp://www.bio-rad.com/en-us/prime-pcr-assays/pathway/diseases

Spina bifida occulta - RightDiagnosis.comSpina bifida occulta - RightDiagnosis.com

... diseases, symptoms, treatments, and other medical and health issues. ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities*Abnormalities*Nervous System Malformations*Neural Tube Defects* ... Laryngeal web congenital heart disease short stature *Laryngeal web, congenital heart disease and low stature Find out more. ... Other congenital musculoskeletal anomalies *Congenital anomaly, unspecified *DISEASES AND INJURIES *Disease Ontology V2.1 2005 ...
more infohttp://www.rightdiagnosis.com/medical/spina_bifida_occulta.htm

MEDICAL DIAGNOSIS AND MEDICINAL PLANTSMEDICAL DIAGNOSIS AND MEDICINAL PLANTS

A similarity measure between symptoms and diseases is provided. ... Ranked list of possible diseases from either several symptoms ... LIST OF POSSIBLE DISEASES (Congenital, Hereditary, and Neonatal Diseases and Abnormalities). (Clic here to try diagnostic from ... Exostoses, Multiple Hereditary. Eye Abnormalities. Eye Diseases, Hereditary. F. Fabry Disease. Factor V Deficiency. Factor VII ... Syphilis, Congenital. T. Tangier Disease. Tay-Sachs Disease. Tay-Sachs Disease, AB Variant. Telangiectasia, Hereditary ...
more infohttps://lookfordiagnosis.com/diseases.php?term=Congenital%2C+Hereditary%2C+and+Neonatal+Diseases+and+Abnormalities&lang=1

Questionnaires Distributed By The Mapi Research Trust - Mapi Research TrustQuestionnaires Distributed By The Mapi Research Trust - Mapi Research Trust

Respiratory tract diseases; Congenital, hereditary, and neonatal diseases and abnormalities; Digestive system diseases; Immune ... Congenital, hereditary, and neonatal diseases and abnormalities; Nervous system diseases; Nutritional and metabolic diseases ... Respiratory tract diseases; Congenital, hereditary, and neonatal diseases and abnormalities; Digestive system diseases; Immune ... Congenital, hereditary, and neonatal diseases and abnormalities; Hemic and lymphatic diseases. QUALIOST®: QUAlity of Life ...
more infohttps://mapi-trust.org/our-resources/questionnaires-distributed-by-the-mapi-research-trust/

Birth Injuries | Profiles RNSBirth Injuries | Profiles RNS

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Infant, Newborn, Diseases [C16.614] ... Neonatal rectovaginal tear during cesarean section. J Pediatr Surg. 1998 Aug; 33(8):1315-6. ...
more infohttps://profiles.umassmed.edu/display/114169

Metabolism, Inborn Errors | Profiles RNSMetabolism, Inborn Errors | Profiles RNS

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. *Genetic Diseases, Inborn [C16.320] ... Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra ...
more infohttps://profiles.umassmed.edu/display/117350

Clinical Trials Register
                
            
		Clinical Trials Register

Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. MedDRA Classification. ... E.1 Medical condition or disease under investigation. E.1.1. Medical condition(s) being investigated congenital fibrinogen ... End-stage liver disease (i.e. Child-Pugh-score B or C)  Planned major surgery with a need for blood transfusion during the PK ... subjects with congenital fibrinogen deficiency.  Determinare la farmacocinetica della singola dose di Octafibrin e ...
more infohttps://www.clinicaltrialsregister.eu/ctr-search/trial/2011-002403-15/IT

Clinical Trials Register
                
            
		Clinical Trials Register

Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]. MedDRA Classification. ... E.1 Medical condition or disease under investigation. E.1.1. Medical condition(s) being investigated Lysosomal Acid Lipase ... Documented small intestinal disease involvement on a small bowel biopsy performed within 1 year of Screening e. Other clinical ... b. Histologically confirmed disease recurrence in patients with past liver or hematopoietic transplants (e.g., re-accumulation ...
more infohttps://www.clinicaltrialsregister.eu/ctr-search/trial/2011-004287-30/IT

Adams Oliver syndrome
     Summary Report | CureHunterAdams Oliver syndrome Summary Report | CureHunter

Congenital defects of head skin (aplasia cutis congenita) with terminal transverse defects of limbs, and skull defects ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668*Congenital Abnormalities: 15467*Multiple Abnormalities: ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 12/01/2009 - "Adams-Oliver syndrome is a ... Musculoskeletal Diseases: 179*Musculoskeletal Abnormalities: 36*Congenital Limb Deformities: 7*Adams Oliver syndrome: 77 ...
more infohttp://www.curehunter.com/public/keywordSummaryC538225-Adams-Oliver-syndrome.do

Search - DAnCER - Wodak LabSearch - DAnCER - Wodak Lab

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; MeSH:D009358 242 Immune System Diseases; MeSH:D007154 229 ...
more infohttp://wodaklab.org/dancer/search/index?search.offset=6050&search.sort%5B0%5D.field=homologCount&search.sort%5B0%5D.order=desc

Search - DAnCER - Wodak LabSearch - DAnCER - Wodak Lab

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; MeSH:D009358 242 Immune System Diseases; MeSH:D007154 229 ...
more infohttp://wodaklab.org/dancer/search/index?search.offset=6050&search.sort%5B0%5D.field=mesh_termCount&search.sort%5B0%5D.order=asc

Recent questions in Genetic Diseases, Inborn - lookformedical.comRecent questions in Genetic Diseases, Inborn - lookformedical.com

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later ... Hemic and Lymphatic Diseases (12) * Congenital, Hereditary, and Neonatal Diseases and Abnormalities (8) * Congenital ...
more infohttps://lookformedical.com/answers/en/questions/diseases/congenital-hereditary-and-neonatal-diseases-and-abnormalities/genetic-diseases-inborn