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Page 1
Molecular genetics of the POMT1-related muscular dystrophy-dystroglycanopathies.
Hu P, Yuan L, Deng H. Hu P, et al. Mutat Res Rev Mutat Res. 2018 Oct-Dec;778:45-50. doi: 10.1016/j.mrrev.2018.09.002. Epub 2018 Sep 12. Mutat Res Rev Mutat Res. 2018. PMID: 30454682 Review.
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated with defective alpha-dystroglycan glycosylation, later termed muscular dystrophy-dystroglycanopathies (MDDGs). MDDGs are characterized by a …
Mutations in the coding gene, POMT1, have been described to be related to a series of autosomal recessive disorders associated …
The phosphoinositide 5-phosphatase INPP5K: From gene structure to in vivo functions.
Schurmans S, Vande Catsyne CA, Desmet C, Moës B. Schurmans S, et al. Adv Biol Regul. 2021 Jan;79:100760. doi: 10.1016/j.jbior.2020.100760. Epub 2020 Oct 10. Adv Biol Regul. 2021. PMID: 33060052 Free article. Review.
Recently, mutations in INPP5K have been detected in patients with a rare form of autosomal recessive congenital muscular dystrophy with cataract, short stature and intellectual disability. ...
Recently, mutations in INPP5K have been detected in patients with a rare form of autosomal recessive congenital muscular dystr …
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Hennermann JB, Raebel EM, Donà F, Jacquemont ML, Cefalo G, Ballabeni A, Malm D. Hennermann JB, et al. Orphanet J Rare Dis. 2022 Jul 23;17(1):287. doi: 10.1186/s13023-022-02422-6. Orphanet J Rare Dis. 2022. PMID: 35871018 Free PMC article. Review.
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. ...RESULTS: Median age at death for patients reported by clinicians/POs was 45 years (mean 40.3 13.2, range 18-56, n …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
Autism and genetics. A decade of research.
Smalley SL, Asarnow RF, Spence MA. Smalley SL, et al. Arch Gen Psychiatry. 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. Arch Gen Psychiatry. 1988. PMID: 3048227 Review.
Genetic heterogeneity is pronounced with potential genetic subgroups, including autosomal recessive inheritance, X-linked inheritance, and sporadic chromosomal anomalies. ...
Genetic heterogeneity is pronounced with potential genetic subgroups, including autosomal recessive inheritance, X-linked inhe …
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:56-64. doi: 10.1002/ajmg.1320370610. Am J Med Genet Suppl. 1990. PMID: 2118780 Review.
Epidemiologic data on 45 patients with Rubinstein-Taybi syndrome from the Netherlands and 50 patients from the USA are compared with data from 407 patients reported in the literature. ...The cause of the syndrome remains unknown. There were no clues for autosomal …
Epidemiologic data on 45 patients with Rubinstein-Taybi syndrome from the Netherlands and 50 patients from the USA are compared with …
Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders.
Hagberg BA, Blennow G, Kristiansson B, Stibler H. Hagberg BA, et al. Pediatr Neurol. 1993 Jul-Aug;9(4):255-62. doi: 10.1016/0887-8994(93)90060-p. Pediatr Neurol. 1993. PMID: 8216537 Review.
A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, the CDG syndrome type I. This disease, an autosomal-recessive multisystem condition, has now been diagnosed in 45 Scan …
A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, …
Premature aging and immunodeficiency: Mulvihill-Smith syndrome?
Ohashi H, Tsukahara M, Murano I, Fujita K, Matsuura S, Fukushima Y, Kajii T. Ohashi H, et al. Am J Med Genet. 1993 Mar 1;45(5):597-600. doi: 10.1002/ajmg.1320450516. Am J Med Genet. 1993. PMID: 8456831 Review.
Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein-Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inherita …
Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a ch …