Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1996 1
2005 1
2007 1
2011 1
2012 1
2015 1
2018 1
2019 2
2020 1
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
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. ...Three out of seven causes of death (42.9%) reported in the literature were associated with septicaemia, two (28.6 …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J. Celmina M, et al. Clin Genet. 2019 Jan;95(1):63-78. doi: 10.1111/cge.13374. Epub 2018 Jul 8. Clin Genet. 2019. PMID: 29722015 Review.
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome is a rare autosomal recessive syndrome first described in 2009 independently by Bockenhauer and …
EAST (Epilepsy, Ataxia, Sensorineural deafness, Tubulopathy) or SeSAME (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and El …
Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.
Moore SW. Moore SW. Pediatr Surg Int. 2012 Nov;28(11):1045-58. doi: 10.1007/s00383-012-3175-6. Epub 2012 Sep 23. Pediatr Surg Int. 2012. PMID: 23001136 Review.
These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural deafness, the Congenital Central Hypoventilation and Mowat-Wilson and other brain-related syndromes, as well as the MEN2 and other tumour as …
These associations with HSCR include Down's syndrome and other chromosomal anomalies, Waardenburg syndrome and other Dominant sensorineural …
Menkes disease: recent advances and new insights into copper metabolism.
Tümer Z, Horn N. Tümer Z, et al. Ann Med. 1996 Apr;28(2):121-9. doi: 10.3109/07853899609092936. Ann Med. 1996. PMID: 8732640 Review.
In recent years remarkable progress has been made in this field following the isolation of the gene defective in Menkes disease. Menkes disease and occipital horn syndrome are X-linked recessive disorders, demonstrating the vital importance of copper, which is also highly …
In recent years remarkable progress has been made in this field following the isolation of the gene defective in Menkes disease. Menkes dise …
[Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review].
Mai JH, Ou ZH, Chen L, Duan J, Liao JX, Han CX. Mai JH, et al. Zhonghua Er Ke Za Zhi. 2020 Oct 2;58(10):833-837. doi: 10.3760/cma.j.cn112140-20200421-00411. Zhonghua Er Ke Za Zhi. 2020. PMID: 32987464 Review. Chinese.
Objective: To explore the clinical characteristics of intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA) in a family caused by GNB5 gene variation and to review the literature. ...GNB5 associated syndromes have phenotypic heterogeneity and are inh …
Objective: To explore the clinical characteristics of intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA) in …
Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
Galarreta CI, Wigby KM, Jones MC. Galarreta CI, et al. Clin Dysmorphol. 2019 Oct;28(4):175-183. doi: 10.1097/MCD.0000000000000282. Clin Dysmorphol. 2019. PMID: 31162149 Review.
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman oculocerebrofacial syndrome is characterized by a recognizable pattern of malformations including moderate to severe intellectual disa …
Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman ocul …
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J; FORGE Canada Consortium; Rockman-Greenberg C. Frosk P, et al. BMC Med Genet. 2015 Apr 30;16:28. doi: 10.1186/s12881-015-0175-0. BMC Med Genet. 2015. PMID: 25925991 Free PMC article. Review.
BACKGROUND: Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable …
BACKGROUND: Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam sy …
[Report of a case with Johanson-Blizzard syndrome and literatures review].
Liu ZF, Zhang ZH, Li M, Jin Y, Lian M, Tang WW. Liu ZF, et al. Zhonghua Er Ke Za Zhi. 2011 Jan;49(1):66-9. Zhonghua Er Ke Za Zhi. 2011. PMID: 21429315 Review. Chinese.
METHOD: The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis was made in diagnosing procedure, and 28 cases of Johanson-Blizzard syndrome with detailed clinical data were reviewed and analyzed. …
METHOD: The clinical characteristics and diagnosing procedure of 1 case with Johanson-Blizzard syndrome were analyzed, and genetic analysis …
[Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis].
Schwarzkopf R, Pinsk V, Weisel Y, Atar D, Gorzak Y. Schwarzkopf R, et al. Harefuah. 2005 Jun;144(6):433-7, 453, 452. Harefuah. 2005. PMID: 15999564 Review. Hebrew.
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease, which is characterized by recurrent episodes of fever, anhidrosis, self mutilation, absence of reaction to noxious stimuli, prolonged healing times and mental reta …
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease, which is characterized …
Nonspecific X-linked mental retardation I: a review with information from 24 new families.
Herbst DS. Herbst DS. Am J Med Genet. 1980;7(4):443-60. doi: 10.1002/ajmg.1320070406. Am J Med Genet. 1980. PMID: 7011032 Review.
Evidence for the existence of a clinical entity of mental retardation associated with the fragile site at Xq27 or 28 and macro-orchidism is discussed. Genetic phenomena of reduced penetrance in males and of partial expression in females with respect of X-linked recessiv …
Evidence for the existence of a clinical entity of mental retardation associated with the fragile site at Xq27 or 28 and macro-orchid …
11 results