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2-propanol and Abnormality, Heart

2-propanol has been researched along with Abnormality, Heart in 25 studies

2-Propanol: An isomer of 1-PROPANOL. It is a colorless liquid having disinfectant properties. It is used in the manufacture of acetone and its derivatives and as a solvent. Topically, it is used as an antiseptic.
propan-2-ol : A secondary alcohol that is propane in which one of the hydrogens attached to the central carbon is substituted by a hydroxy group.

Research Excerpts

ExcerptRelevanceReference
"Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder."2.72Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. ( Kosaki, K; Miyama, S; Sakaguchi, Y; Takenouchi, T; Uehara, T; Yoshihashi, H, 2021)
"The biologic peculiarities of tumors of early life are elucidated."2.35Neoplasia of early life and its relationships to teratogenesis. ( Bolande, RP, 1976)
"A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life."1.32Hyper-IgM syndrome with CHARGE association. ( Aragón, P; Bahillo, P; Cambronero, R; Cantero, T; Gómez, S; Solís, P, 2003)
"In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency."1.27The spectrum of clinical features in CHARGE syndrome. ( Davenport, SL; Hefner, MA; Mitchell, JA, 1986)
"An association of ocular colobomata and congenital heart disease was observed in seven patients."1.25Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. ( Ho, CK; Kaufman, RL; Podos, SM, 1975)

Research

Studies (25)

TimeframeStudies, this research(%)All Research%
pre-199018 (72.00)18.7374
1990's2 (8.00)18.2507
2000's2 (8.00)29.6817
2010's2 (8.00)24.3611
2020's1 (4.00)2.80

Authors

AuthorsStudies
Sakaguchi, Y1
Yoshihashi, H1
Uehara, T1
Miyama, S1
Kosaki, K1
Takenouchi, T1
Chang, TC1
Bauer, M1
Puerta, HS1
Greenberg, MB1
Cavuoto, KM1
Morlino, S1
Alesi, V1
Calì, F1
Lepri, FR1
Secinaro, A1
Grammatico, P1
Novelli, A1
Drago, F1
Castori, M1
Baban, A1
ROBINSON, GC1
DIKRAINIAN, DA1
ROSEBOROUGH, GF1
Bahillo, P1
Cantero, T1
Solís, P1
Aragón, P1
Gómez, S1
Cambronero, R1
Lillquist, K1
Warburg, M1
Andersen, SR1
Hägerstrand, I1
Fledelius, HC1
Wieczorek, D1
Krause, M1
Majewski, F1
Albrecht, B1
Horn, D1
Riess, O1
Gillessen-Kaesbach, G1
Bühler, EM1
Tsuchimoto, T1
Bolande, RP1
Krarup, JC1
Ho, CK1
Kaufman, RL1
Podos, SM1
Kapur, S1
Toriello, HV1
Davenport, SL1
Hefner, MA1
Mitchell, JA1
Abruzzo, MA1
Erickson, RP1
Beemer, FA1
de Nef, JJ1
Delleman, JW1
Bleeker-Wagemakers, EM1
Shprintzen, RJ1
Lin, AE1
Gelatt, KN1
McGill, LD1
Freedom, RM1
Gerald, PS1
Yanoff, M1
Fine, BS1
Schaffer, DB1
Petersen, RA1
Geltzer, AI1
Guber, D1
Sears, ML1
Deimarcelle, Y1
Weiss, DI1
Ziring, PR1
Cooper, LZ1
Koleszár, G1

Reviews

2 reviews available for 2-propanol and Abnormality, Heart

ArticleYear
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
    American journal of medical genetics. Part A, 2021, Volume: 185, Issue:3

    Topics: Abnormalities, Multiple; Amino Acid Substitution; Cerebellum; Choroid; Coloboma; Craniofacial Abnorm

2021
Neoplasia of early life and its relationships to teratogenesis.
    Perspectives in pediatric pathology, 1976, Volume: 3

    Topics: Abnormalities, Drug-Induced; Carcinoma, Basal Cell; Chromosome Aberrations; Chromosome Disorders; Co

1976

Other Studies

23 other studies available for 2-propanol and Abnormality, Heart

ArticleYear
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2017, Volume: 21, Issue:6

    Topics: Abnormalities, Multiple; Adaptor Proteins, Signal Transducing; Amblyopia; Child, Preschool; Choroid;

2017
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
    American journal of medical genetics. Part A, 2019, Volume: 179, Issue:1

    Topics: Adolescent; Child; Corneal Diseases; Ectopia Lentis; Eye Diseases, Hereditary; Female; Genetic Disea

2019
CONGENITAL HORNER'S SYNDROME AND HETEROCHROMIA IRIDUM. THEIR ASSOCIATION WITH CONGENITAL FOREGUT AND VERTEBRAL ANOMALIES.
    Pediatrics, 1965, Volume: 35

    Topics: Abnormalities, Multiple; Cervical Vertebrae; Congenital Abnormalities; Craniopharyngioma; Heart Defe

1965
Hyper-IgM syndrome with CHARGE association.
    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, 2003, Volume: 14, Issue:6

    Topics: Abnormalities, Multiple; Child, Preschool; Choanal Atresia; Coloboma; Cranial Nerve Diseases; Face;

2003
Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex.
    Acta paediatrica Scandinavica, 1980, Volume: 69, Issue:3

    Topics: Abnormalities, Multiple; Choroid; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Ciliary Body

1980
Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
    Acta ophthalmologica Scandinavica. Supplement, 1996, Issue:219

    Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 13;

1996
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
    European journal of human genetics : EJHG, 2000, Volume: 8, Issue:7

    Topics: Abnormalities, Multiple; Adolescent; Body Weight; Child; Child, Preschool; Chromosome Deletion; Chro

2000
[Prenatal diagnosis in balanced D/D translocation carriers].
    Monatsschrift fur Kinderheilkunde, 1975, Volume: 123, Issue:5

    Topics: Adolescent; Adult; Chromosomes, Human, 13-15; Chromosomes, Human, 21-22 and Y; Down Syndrome; Eye Di

1975
Atypical rubeosis iridis in congenital cyanotic heart disease. Report of a case with microhaemangiomas at the pupillary margin causing spontaneous hyphaemas.
    Acta ophthalmologica, 1977, Volume: 55, Issue:4

    Topics: Adult; Cyanosis; Female; Heart Defects, Congenital; Hemangioma; Humans; Hyphema; Iris; Microcirculat

1977
Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.
    Journal of medical genetics, 1975, Volume: 12, Issue:3

    Topics: Abnormalities, Multiple; Bone and Bones; Central Nervous System; Coloboma; Female; Heart Defects, Co

1975
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.
    American journal of medical genetics, 1991, Dec-15, Volume: 41, Issue:4

    Topics: Abnormalities, Multiple; Child; Female; Genes, Recessive; Heart Defects, Congenital; Humans; Infant;

1991
The spectrum of clinical features in CHARGE syndrome.
    Clinical genetics, 1986, Volume: 29, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Adult; Central Nervous System Diseases; Child, Preschool; Choan

1986
Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association.
    American journal of medical genetics, 1989, Volume: 34, Issue:3

    Topics: Abnormalities, Multiple; Adolescent; Cleft Palate; Coloboma; Dwarfism; Ear; Follow-Up Studies; Heari

1989
Additional eye findings in a girl with the velo-cardio-facial syndrome.
    American journal of medical genetics, 1986, Volume: 24, Issue:3

    Topics: Abnormalities, Multiple; Child; Coloboma; Eye Abnormalities; Facial Asymmetry; Female; Heart Defects

1986
Charge association vs. velo-cardio-facial syndrome.
    American journal of medical genetics, 1988, Volume: 29, Issue:4

    Topics: Abnormalities, Multiple; Heart Defects, Congenital; Humans; Iris; Retina; Syndrome; Terminology as T

1988
Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd Dog.
    Journal of the American Veterinary Medical Association, 1973, Mar-01, Volume: 162, Issue:5

    Topics: Abnormalities, Multiple; Animals; Cataract; Choroid; Coloboma; Cornea; Dog Diseases; Dogs; Fundus Oc

1973
Congenital cardiac disease and the "cat eye" syndrome.
    American journal of diseases of children (1960), 1973, Volume: 126, Issue:1

    Topics: Abnormalities, Multiple; Adolescent; Anal Canal; Azygos Vein; Child; Child, Preschool; Choroid; Chro

1973
Histopathology of transient neonatal lens vacuoles.
    American journal of ophthalmology, 1973, Volume: 76, Issue:3

    Topics: Carbohydrate Metabolism; Cataract; Cytoplasm; Female; Heart Defects, Congenital; Heart Septal Defect

1973
Schmid-Fraccaro syndrome ("cat's eye" syndrome).
    Archives of ophthalmology (Chicago, Ill. : 1960), 1973, Volume: 90, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Cataract; Child; Choroid; Coloboma; Craniofa

1973
Ocular manifestations of the 1964-65 rubella epidemic.
    American journal of ophthalmology, 1967, Volume: 63, Issue:2

    Topics: Cataract; Connecticut; Cornea; Corneal Opacity; Eye Abnormalities; Eye Diseases; Female; Glaucoma; H

1967
[Congenital glaucoma with dominant heredity associated with ocular and somatic malformations (Rieger's syndrome)].
    Annales d'oculistique, 1968, Volume: 201, Issue:2

    Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Cleft Palate; Corneal Opacity;

1968
Surgery of the rubella cataract.
    American journal of ophthalmology, 1972, Volume: 73, Issue:3

    Topics: Abnormalities, Multiple; Age Factors; Cataract; Cataract Extraction; Child, Preschool; Deafness; Fem

1972
[Familial frequency of congenital aniridia].
    Klinische Monatsblatter fur Augenheilkunde, 1967, Volume: 150, Issue:4

    Topics: Cataract; Child; Cleft Lip; Cleft Palate; Eye Diseases; Heart Defects, Congenital; Humans; Intellect

1967