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Page 1
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.
The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked inheritance, nor for a teratogenic cause. No consistent chromosome anomaly was found. An autosomal dominant mutation, either as submicroscopic chromosome deleti …
The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked inheritance, nor for a teratogenic …
[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician].
Bremond-Gignac D, Robert M, Daruich A, Borderie V, Chiambaretta F, Valleix S; Groupe Rédacteur Relecteur PNDS Aniridie. Bremond-Gignac D, et al. J Fr Ophtalmol. 2022 Jun;45(6):647-652. doi: 10.1016/j.jfo.2022.01.005. J Fr Ophtalmol. 2022. PMID: 35667788 Review. French.
In most cases, it is due to an abnormality in the PAX6 gene, located at 11p13. Aniridia is a potentially blinding autosomal dominant disease with high penetrance. The prevalence varies from 1/40,000 births to 1/96,000 births. ...Medico-socio-educational care involve …
In most cases, it is due to an abnormality in the PAX6 gene, located at 11p13. Aniridia is a potentially blinding autosomal domina …
Novel mutations in Chinese Han patients with tuberous sclerosis complex: Case series and review of the published work.
Zheng LY, Lee YW, Han Y, Tang LL, Cheng YY, Dou JF, Zhou FS, Zheng XD, Wang HY, Wang PG, Gao M. Zheng LY, et al. J Dermatol. 2018 Jul;45(7):867-870. doi: 10.1111/1346-8138.14349. Epub 2018 May 9. J Dermatol. 2018. PMID: 29740858 Review.
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ systems. ...
Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease characterized by hamartomas in multiple organ system …
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 Scandinavia …
A new group of metabolic disorders, the carbohydrate-deficient glycoprotein (CDG) syndromes, is reviewed with emphasis on the key condition, …
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review.
Das J, Lilleker J, Shereef H, Ealing J. Das J, et al. Neurol Neurochir Pol. 2017 Nov-Dec;51(6):497-500. doi: 10.1016/j.pjnns.2017.06.012. Epub 2017 Jul 8. Neurol Neurochir Pol. 2017. PMID: 28826917 Review.
We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by a heterozygous c.805C>T, p.Arg269Trp missense mutation in ITPR1. ...Several neurological conditions have been associated with ITPR1 muta …
We report a family with infantile-onset cerebellar ataxia with delayed motor development and intellectual disability caused by …
[Alzheimer's disease and Down's syndrome. Some recent etiopathogenic data].
Golaz J, Charnay Y, Vallet P, Bouras C. Golaz J, et al. Encephale. 1991 Jan-Feb;17(1):29-31. Encephale. 1991. PMID: 1669030 Review. French.
The senile plaques appear very early in trisomy 21 (from the age of 20) and are constant after 40 or 45 years. In these two illnesses, the beta-amyloid protein or A4 protein (4.2 kD) leads to deposits in preferential regions of the central nervous system within two compart …
The senile plaques appear very early in trisomy 21 (from the age of 20) and are constant after 40 or 45 years. In these two illnesses …