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The following term was not found in PubMed: disability-cerebellar
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ATR-X syndrome: genetics, clinical spectrum, and management.
León NY, Harley VR. León NY, et al. Hum Genet. 2021 Dec;140(12):1625-1634. doi: 10.1007/s00439-021-02361-5. Epub 2021 Sep 15. Hum Genet. 2021. PMID: 34524523
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalie …
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominant …
Oral Function and Feeding Management in a Child with Alpha Thalassemia X-Linked Intellectual Disability Syndrome.
Nakamura Y, Hanasaki M, Sano T, Hayasaki H, Iwase Y, Saitoh I. Nakamura Y, et al. J Dent Child (Chic). 2021 Sep 15;88(3):206-209. J Dent Child (Chic). 2021. PMID: 34937632
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome affects males and is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. ...The purposes of this report are to descri …
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome affects males and is associated with profoun …
Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: a study in 203 Indian patients.
Boggula VR, Shukla A, Danda S, Hariharan SV, Nampoothiri S, Kumar R, Phadke SR. Boggula VR, et al. Indian J Med Res. 2014 Jan;139(1):66-75. Indian J Med Res. 2014. PMID: 24604040 Free PMC article.
The detection rates were 6.9 and 7.4 per cent for common microdeletion/microduplication and subtelomeric probe sets, respectively. No abnormality was detected with probe set for X-linked ID. The subtelomeric abnormalities detected included deletions of 1p36.3 …
The detection rates were 6.9 and 7.4 per cent for common microdeletion/microduplication and subtelomeric probe sets, respectively. No abnorm …
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, Brady AF, Brischoux-Boucher E, Brunner H, Bulk S, Canham N, Cody D, Dentici ML, Digilio MC, Elmslie F, Fry AE, Gill H, Hurst J, Johnson D, Julia S, Lachlan K, Lebel RR, Byler M, Gershon E, Lemire E, Gnazzo M, Lepri FR, Marchese A, McEntagart M, McGaughran J, Mizuno S, Okamoto N, Rieubland C, Rodgers J, Sasaki E, Scalais E, Scurr I, Suri M, van der Burgt I, Matsumoto N, Miyake N, Benoit V, Lederer D, Banka S. Faundes V, et al. Genet Med. 2021 Jul;23(7):1202-1210. doi: 10.1038/s41436-021-01119-8. Epub 2021 Mar 5. Genet Med. 2021. PMID: 33674768 Free PMC article.
PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS: Genetic and clinical details of new and published individuals with pathogenic KDM6A variants were compiled and analyzed. ...Neonatal feedi …
PURPOSE: The variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood. METHODS …
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Grams SE, Argiropoulos B, Lines M, Chakraborty P, Mcgowan-Jordan J, Geraghty MT, Tsang M, Eswara M, Tezcan K, Adams KL, Linck L, Himes P, Kostiner D, Zand DJ, Stalker H, Driscoll DJ, Huang T, Rosenfeld JA, Li X, Chen E. Grams SE, et al. Am J Med Genet A. 2016 Apr;170A(4):967-77. doi: 10.1002/ajmg.a.37519. Epub 2015 Dec 22. Am J Med Genet A. 2016. PMID: 26692240
Duplications of HUWE1 have been previously associated with non-syndromic ID. Our data, with previously published reports, suggest that duplications involving SHROOM4 and DGKK may represent a new syndromic X-linked ID critical region associated with mil …
Duplications of HUWE1 have been previously associated with non-syndromic ID. Our data, with previously published reports, suggest tha …
Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene.
Fichera M, Silengo M, Spalletta A, Giudice ML, Romano C, Ragusa A. Fichera M, et al. Prenat Diagn. 2001 Sep;21(9):747-51. doi: 10.1002/pd.142. Prenat Diagn. 2001. PMID: 11559911
The molecular cause of the alpha-thalassemia/mental retardation syndrome (ATR-X) resides in mutations affecting the XNP/ATR-X gene. Recently molecular defects in the gene have been found in singular cases of a discrete number of X-linked mental retardation (X …
The molecular cause of the alpha-thalassemia/mental retardation syndrome (ATR-X) resides in mutations affecting the XNP/ATR-X gene. R …
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Sharer JD, Bodamer O, Longo N, Tortorelli S, Wamelink MM, Young S. Sharer JD, et al. Genet Med. 2017 Feb;19(2):256-263. doi: 10.1038/gim.2016.203. Epub 2017 Jan 5. Genet Med. 2017. PMID: 28055022 Free article.
They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may …
They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific …
Genotype-phenotype correlation in L1 associated diseases.
Fransen E, Van Camp G, D'Hooge R, Vits L, Willems PJ. Fransen E, et al. J Med Genet. 1998 May;35(5):399-404. doi: 10.1136/jmg.35.5.399. J Med Genet. 1998. PMID: 9610803 Free PMC article.
The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory and learning. Mutations in the L1 gene are responsible for four X linked neurological conditions: X linked hydroc …
The neural cell adhesion molecule L1 (L1CAM) plays a key role during embryonic development of the nervous system and is involved in memory a …
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS. DeBrosse SD, et al. Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7. Mol Genet Metab. 2012. PMID: 23021068
Seizures (57%), microcephaly (49%), and structural brain abnormalities including ventriculomegaly (67%) and agenesis, dysgenesis, or hypoplasia of the corpus callosum (55%) were common. Leigh syndrome was found in only 35%. Structural brain abnormalities …
Seizures (57%), microcephaly (49%), and structural brain abnormalities including ventriculomegaly (67%) and agenesis, dysgenesis, or …
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.
Du YZ, Srivastava AK, Schwartz CE. Du YZ, et al. Hum Mutat. 1998;11(3):222-30. doi: 10.1002/(SICI)1098-1004(1998)11:3<222::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 1998. PMID: 9521424
Using this method we have identified 6 novel mutations in the L1CAM gene in 5 patients with X-linked hydrocephalus and 2 patients with MASA. One of the mutations was common to both a patient with HSAS and a patient with MASA. The utilization of REF will allow for ea …
Using this method we have identified 6 novel mutations in the L1CAM gene in 5 patients with X-linked hydrocephalus and 2 patie …
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