Cardiac disease may be present in up to 33%. [emedicine.medscape.com]

Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. [nature.com]

He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]

In the study presented here, the investigation of 135 families led to the identification of 31 novel genomic loci for ARMR. [pubman.mpdl.mpg.de]

Patients with NPS may present with hematuria and an incidence of approximately 10–20% has been described [1]. [egms.de]

Diagnostic workup of patients with MR should include all or some of the following: careful dysmorphological and neurological examination, karyotyping, fragile X analysis, investigations aimed at detection of microdeletions/microduplications and resequencing [els.net]

Put the very latest scientific and genetic discoveries, diagnostic imaging methods, drug therapies, treatment recommendations, and surgical techniques to work in your practice. [books.google.com]

“Dietary treatment of hyperlysinaemia”. Arch. Dis. Child., 64 :716–20, May 1989. PMID 2499273. Cox RP, Markovitz PJ, Chuang DT. [de.wikibooks.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

“The prognosis of hyperlysinemia: an interim report”. Am. J. Hum. Genet., 35 :438–42, May 1983. PMID 6407303. Cederbaum SD, Shaw KN, Dancis J, Hutzler J, Blaskovics JC. [de.wikibooks.org]

Significant questions remain concerning the prognosis of individuals detected with abnormal albuminuria and a normal glomerular filtration rate (GFR). [egms.de]

Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment. Int J Nephrol Renovasc Dis. 2010; 3 :69–83. [ PMC free article : PMC3108786 ] [ PubMed : 21694932 ] 13. Harris PC, Torres VE. [ncbi.nlm.nih.gov]

The etiology remains unknown in up to 80% of cases with mild intellectual disability (4). Depending on the underlying etiology, the recurrence risk can vary between the background and 50%. [dnatesting.uchicago.edu]

Mental retardation and multiple congenital anomalies of unknown etiology: frequency of occurrence in similarly affected sibs of the proband. Birth Defects Orig Artic Ser 1978; 14: 127-37. 8. [jpma.org.pk]

Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard 1987 ; 92 : 243 –54. Curry CJ, Stevenson RE, Aughton D, et al. [jmg.bmj.com]

MR is characterized by high heterogeneous etiology [3], as an important number of studies indicate that the MR may result from genetic impairment [4, 5, 6]. [latunisiemedicale.com]

European Journal of Human Genetics 13: 6–25. van Karnebeek CD, Scheper FY, Abeling NG et al. (2005a) Etiology of mental retardation in children referred to a tertiary care center: a prospective study. [els.net]

Leonard H and Wen X (2002) The epidemiology of mental retardation: challenges and opportunities in the new millennium. Mental Retardation and Developmental Disabilities Research Reviews 8: 117–134. [els.net]

These statistics oscillate among the different epidemiological studies. MR is characterized by high heterogeneous etiology [3], as an important number of studies indicate that the MR may result from genetic impairment [4, 5, 6]. [latunisiemedicale.com]

Nat Rev Genet 6:46–57 Google Scholar Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH (1994) An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. [link.springer.com]

The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment Retard Dev Disabil Res Rev 2002; 8: 117-34. 2. Diagnostic and statistical manual of mental disorders. Text revision (DSM-IV-TR). 4th ed. [jpma.org.pk]

Comprehensively updated to reflect everything you need to know regarding retinal diagnosis, treatment, development, structure, function, and pathophysiology, this monumental ophthalmology reference work equips you with expert answers to virtually any [books.google.com]

Recent advances on the mechanisms regulating cholangiocyte proliferation and the significance of the neuroendocrine regulation of cholangiocyte pathophysiology. [ncbi.nlm.nih.gov]

1997, vol. 72 (pg. 468 - 477 ) 2 Genetics and pathophysiology of mental retardation, Eur. J. Hum. Genet., 2006, vol. 14 (pg. 701 - 713 ) 3 X-linked mental retardation, Nat. Rev. [academic.oup.com]

Chelly J, Khelfaoui M, Francis F, Cherif B, Bienvenu T : Genetics and pathophysiology of mental retardation. Eur J Hum Genet 2006; 14 : 701–713. 10. [nature.com]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]

A large‐scale programme for the prevention of MR based on carrier screening is rarely possible in specific populations except for Fragile X syndrome. [els.net]

See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980). [www2.loras.edu]

Therapeutic strategies to prevent and retard renal and liver cyst growth should be available in the near future. [ncbi.nlm.nih.gov]

[…] associated athanogene 3 myopathy (MFM6) is caused by a mutation on the BAG3 gene and has been described in a few patients. [48, 49] The BAG family of proteins bind to HSP70/HSC70 (heat shock proteins that act as chaperones to assist with protein folding and prevent [emedicine.medscape.com]