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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 44"
Page 1
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M. Maroofian R, et al. Brain. 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. Brain. 2023. PMID: 37517035 Free PMC article.
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with spasticity, cataracts and cerebellar hypoplasia. ...It is characterized by mild to profound global developmental delay/intellectual …
Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder …
Next-Generation Sequencing in Unexplained Intellectual Disability.
Sandal S, Verma IC, Mahay SB, Dubey S, Sabharwal RK, Kulshrestha S, Saxena R, Suman P, Kumar P, Puri RD. Sandal S, et al. Indian J Pediatr. 2024 Jul;91(7):682-695. doi: 10.1007/s12098-023-04820-5. Epub 2023 Oct 7. Indian J Pediatr. 2024. PMID: 37804371
OBJECTIVES: To determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual disability (ID) unexplained by conventional tests and to assess the impact of definitive diagnosis on the clinical management and …
OBJECTIVES: To determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual …
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Here we delineate the clinical, neuroimaging and molecular features of 44 individuals from 36 families, the largest cohort assembled to date. ...The molecular spectrum included 45 distinct variants, distributed across the protein structure without mutational hotspots. Spas …
Here we delineate the clinical, neuroimaging and molecular features of 44 individuals from 36 families, the largest cohort assembled …
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium. Parvari R, et al. Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21. Nat Genet. 2002. PMID: 12389028
The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar synd …
The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndr …
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X, Alvarez AN, Ma M, Lu S, Crawford MW, Briere LC, Kanca O, Yamamoto S, Sweetser DA, Wilson JL, Napier RJ, Pruneda JN, Bellen HJ. Pan X, et al. Elife. 2023 Dec 11;12:RP89891. doi: 10.7554/eLife.89891. Elife. 2023. PMID: 38079206 Free PMC article.
Variants in the UBA5 gene are associated with developmental and epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy, movement abnormalities, global developmental delay, intellectual disabi …
Variants in the UBA5 gene are associated with developmental and epileptic encephalopathy 44 (DEE44), an autosomal recessive …
Congenital hypothyroidism. Aetiological and clinical aspects.
Mäenpää J. Mäenpää J. Arch Dis Child. 1972 Dec;47(256):914-23. doi: 10.1136/adc.47.256.914. Arch Dis Child. 1972. PMID: 4119068 Free PMC article.
In the last-mentioned group, organic binding of iodide was defective in 13; in the 9 families studied there was evidence of autosomal recessive inheritance. Duration of pregnancy had exceeded 42 weeks in 20 (32%) out of 63 pregnancies. ...Neurological defects were f …
In the last-mentioned group, organic binding of iodide was defective in 13; in the 9 families studied there was evidence of autosomal …
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
Zarowski M, Vendrame M, Irons M, Kothare SV. Zarowski M, et al. Am J Med Genet A. 2011 Jul;155A(7):1558-62. doi: 10.1002/ajmg.a.34021. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626671
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, and intellectual disability. ...Symptoms of excessive-daytime-sleepiness were frequently reported [un-refreshed in the morning …
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, …
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS. Perez Y, et al. Brain. 2017 Apr 1;140(4):928-939. doi: 10.1093/brain/awx013. Brain. 2017. PMID: 28334855 Free PMC article.
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor a …
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioratio …
An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.
Hayakawa M, Matsubara T, Mochizuki Y, Takeuchi C, Minamitani M, Imai M, Kosaki K, Arai T, Murayama S. Hayakawa M, et al. BMC Neurol. 2022 Jan 3;22(1):2. doi: 10.1186/s12883-021-02514-z. BMC Neurol. 2022. PMID: 34979968 Free PMC article.
BACKGROUND: The detailed neuropathological features of patients with autosomal recessive hereditary spastic paraplegia with a thin corpus callosum (TCC) and SPG11 mutations are poorly understood, as only a few autopsies have been reported. ...CASE PRESENTATION: A Ja …
BACKGROUND: The detailed neuropathological features of patients with autosomal recessive hereditary spastic paraplegia with a …
Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome.
Arroyo-Carrera I, de Zaldívar Tristancho MS, Bermejo-Sánchez E, Martínez-Fernández ML, López-Lafuente A, MacDonald A, Zúñiga Á, Luis Gómez-Skarmeta J, Luisa Martínez-Frías M. Arroyo-Carrera I, et al. Am J Med Genet A. 2015 Jun;167(6):1243-51. doi: 10.1002/ajmg.a.36878. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25899426
Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. ...The current patient was considered as having a recessive …
Warburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, …
13 results