Page last updated: 2024-10-18

glycine and Angiomatosis Retinae

glycine has been researched along with Angiomatosis Retinae in 2 studies

Research Excerpts

ExcerptRelevanceReference
"The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature."1.32Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. ( Assadi, F; Brackbill, EL, 2003)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Assadi, F1
Brackbill, EL1
Moore, PS1
Antonello, D1
Martignoni, G1
Racchini, C1
Ventrucci, M1
Scarpa, A1

Other Studies

2 other studies available for glycine and Angiomatosis Retinae

ArticleYear
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.
    American journal of kidney diseases : the official journal of the National Kidney Foundation, 2003, Volume: 41, Issue:1

    Topics: Adrenal Gland Neoplasms; Amino Acid Substitution; Child; Cryptorchidism; Developmental Disabilities;

2003
Identification of a novel mutation (c279delC) and a polymorphism (c291C>G) in the von Hippel-Lindau gene in Italian patients.
    Human mutation, 2000, Volume: 15, Issue:6

    Topics: Amino Acid Substitution; Cysteine; Genes, Tumor Suppressor; Glycine; Humans; Italy; Ligases; Mutatio

2000