proline and Abnormalities, Congenital

proline has been researched along with Abnormalities, Congenital in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19903 (42.86)18.7374
1990's2 (28.57)18.2507
2000's2 (28.57)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
PERKOFF, GT1
EFRON, ML1
Anjot, MN; Brauner, R; Lottmann, H; McElreavey, K; Trivin, C; Vinci, G1
Fujimoto, M; Fukami, M; Hasegawa, T; Koitabashi, Y; Ogata, T; Soneda, S1
Buchmiller, TL; Chopourian, HL; Curr, M; Diamond, JM; Fonkalsrud, EW; Habib, R; Lam, MM; Shaw, K1
Asakura, S; Hirata, H; Matsuda, M; Okuma, M; Yamazumi, K; Yoshida, N1
Buchinger, G; Büsse, M; Kühner, U1

Reviews

1 review(s) available for proline and Abnormalities, Congenital

ArticleYear
FAMILIAL ASPECTS OF DIFFUSE RENAL DISEASES.
    Annual review of medicine, 1964, Volume: 15

    Topics: Amyloidosis; Angiokeratoma; Blood; Congenital Abnormalities; Deafness; Genetics, Medical; Hematuria; Humans; Hydroxyproline; Kidney; Kidney Diseases; Nephritis; Paralyses, Familial Periodic; Polycystic Kidney Diseases; Proline; Skin Neoplasms; Urticaria

1964

Other Studies

6 other study(ies) available for proline and Abnormalities, Congenital

ArticleYear
FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT.
    The New England journal of medicine, 1965, Jun-17, Volume: 272

    Topics: 1-Pyrroline-5-Carboxylate Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Amino Acid Oxidoreductases; Blood; Cerebrospinal Fluid; Child; Clinical Enzyme Tests; Congenital Abnormalities; Genetics, Medical; Hematuria; Humans; Intellectual Disability; Kidney Diseases; Nephritis, Hereditary; Proline; Proline Oxidase; Urine

1965
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia.
    The Journal of clinical endocrinology and metabolism, 2004, Volume: 89, Issue:12

    Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Congenital Abnormalities; Embryonic Development; Genes, sry; Humans; Infant; Infant, Newborn; Insulin; Male; Proline; Proteins; Receptors, G-Protein-Coupled; Testis; Threonine

2004
Association of micropenis with Pro185Ala polymorphism of the gene for aryl hydrocarbon receptor repressor involved in dioxin signaling.
    Endocrine journal, 2005, Volume: 52, Issue:1

    Topics: Adolescent; Alanine; Arginine; Basic Helix-Loop-Helix Transcription Factors; Case-Control Studies; Child; Child, Preschool; Congenital Abnormalities; Dioxins; Gene Frequency; Genetic Predisposition to Disease; Humans; Infant; Infant, Newborn; Lysine; Male; Penis; Polymorphism, Genetic; Proline; Receptors, Aryl Hydrocarbon; Repressor Proteins; Signal Transduction

2005
Impairment of nutrient uptake in a rabbit model of gastroschisis.
    Journal of pediatric surgery, 1994, Volume: 29, Issue:3

    Topics: Abdominal Muscles; Animals; Body Weight; Congenital Abnormalities; Female; Glucose; Intestinal Absorption; Intestine, Small; Models, Biological; Organ Size; Placental Insufficiency; Pregnancy; Proline; Rabbits

1994
Fibrinogen Kyoto II, a new congenitally abnormal molecule, characterized by the replacement of A alpha proline-18 by leucine.
    Blood, 1991, Jul-01, Volume: 78, Issue:1

    Topics: Adult; Amino Acid Sequence; Chromatography, High Pressure Liquid; Congenital Abnormalities; Electrophoresis, Polyacrylamide Gel; Female; Fibrinogens, Abnormal; Genetic Variation; Humans; Leucine; Molecular Sequence Data; Proline

1991
Cir-du-chat syndrome with an increased level of proline and threonine.
    Zeitschrift fur Kinderheilkunde, 1974, Volume: 117, Issue:4

    Topics: Chromosome Mapping; Congenital Abnormalities; Cri-du-Chat Syndrome; Female; Humans; Infant; Kidney; Proline; Threonine; Urography

1974