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Nijmegen breakage syndrome.
van der Burgt I, Chrzanowska KH, Smeets D, Weemaes C. van der Burgt I, et al. J Med Genet. 1996 Feb;33(2):153-6. doi: 10.1136/jmg.33.2.153. J Med Genet. 1996. PMID: 8929954 Free PMC article. Review.
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical …
Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 an …
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. ...Other causes of death included acute renal failure due to sepsis after intestinal perforation, decrease of red blood cel …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.
Agopiantz M, Corbonnois P, Sorlin A, Bonnet C, Klein M, Hubert N, Pascal-Vigneron V, Jonveaux P, Cuny T, Leheup B, Weryha G. Agopiantz M, et al. J Endocrinol Invest. 2014 Jan;37(1):1-7. doi: 10.1007/s40618-013-0001-5. Epub 2014 Jan 8. J Endocrinol Invest. 2014. PMID: 24464444 Review.
First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in adolescence. ...WSS was invariably associated with hypogonadism, decreased IGF1 and frontotemporal alopecia st …
First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic disorder that leads to a spectr …
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Gatti M, Magri S, Di Bella D, Sarto E, Taroni F, Mariotti C, Nanetti L. Gatti M, et al. Neurol Sci. 2021 Nov;42(11):4741-4745. doi: 10.1007/s10072-021-05463-0. Epub 2021 Jul 12. Neurol Sci. 2021. PMID: 34251556 Review.
INTRODUCTION: Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutations in the non-lysosomal glucosylceramidase beta2 (GBA2) gene. ...The patient presented unsteady gait at age 2, and progressively manifested …
INTRODUCTION: Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutati …
[Autosomal recessive diseases with mental retardation].
Fernández-Carvajal I, Telleria JJ, Alonso M, Palencia R, Durán M, López B, Navarro N, de Diego-Otero Y, Blanco A. Fernández-Carvajal I, et al. Rev Neurol. 2006 Jan 7;42 Suppl 1:S39-43. Rev Neurol. 2006. PMID: 16506131 Free article. Review. Spanish.
INTRODUCTION: Autosomal recessive diseases with mental retardation are disorders that affect autosomes, and their genetic expression occurs in individuals who are homozygotic for a mutation, while heterozygotic subjects are unaffected carriers. ...Its early d …
INTRODUCTION: Autosomal recessive diseases with mental retardation are disorders that affect autosomes, and their genet …
[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].
Cochat P, Loras-Duclaux I, Guibaud P. Cochat P, et al. Pediatrie. 1987;42(2):121-8. Pediatrie. 1987. PMID: 3112731 Review. French.
This disease has been reported in 27 other patients to date; the study of the pedigrees indicates that it is supported by autosomal recessive inheritance. All the patients have a very high CA I/CA II ratio (greater than 10(4) versus 6 to 10 in controls) and carrier …
This disease has been reported in 27 other patients to date; the study of the pedigrees indicates that it is supported by autosomal