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Quoted phrase not found in phrase index: "Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities"
Page 1
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. ...RESULTS: We report on the detailed clinical characterization of a large cohor …
ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive f …
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Rots D, et al. Am J Hum Genet. 2021 Jun 3;108(6):1053-1068. doi: 10.1016/j.ajhg.2021.04.008. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909990 Free PMC article.
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. ...Detai …
Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental diso …
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM. Verberne EA, et al. Int J Mol Sci. 2022 Jul 20;23(14):8001. doi: 10.3390/ijms23148001. Int J Mol Sci. 2022. PMID: 35887345 Free PMC article.
JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive impairment, hypotonia, autistic features, behavior abnormalities and dysmorphic facial …
JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by deve …
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and …
Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior p …
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations.
Dai W, Sun Y, Fan Y, Gao Y, Zhan Y, Wang L, Xiao B, Qiu W, Gu X, Sun K, Yu Y, Xu N. Dai W, et al. Eur J Hum Genet. 2023 Jan;31(1):112-121. doi: 10.1038/s41431-022-01217-4. Epub 2022 Nov 14. Eur J Hum Genet. 2023. PMID: 36376392 Free PMC article.
PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 microdeletion syndrome and PURA syndrome. ...There was no significant difference between two groups in incidence of neonatal problems, developmental delay and common medical comorbidities. We obser …
PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 microdeletion syndrome and PURA syndrome. ...There was no …
RSRC1 mutation affects intellect and behaviour through aberrant splicing and transcription, downregulating IGFBP3.
Perez Y, Menascu S, Cohen I, Kadir R, Basha O, Shorer Z, Romi H, Meiri G, Rabinski T, Ofir R, Yeger-Lotem E, Birk OS. Perez Y, et al. Brain. 2018 Apr 1;141(4):961-970. doi: 10.1093/brain/awy045. Brain. 2018. PMID: 29522154
RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-related protein family. Through homozygosity mapping and whole exome sequencing we show that RSRC1 mutation causes an autosomal recessive syndr …
RSRC1, whose polymorphism is associated with altered brain function in schizophrenia, is a member of the serine and arginine rich-rel …
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Moog U, et al. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. J Med Genet. 2011. PMID: 21954287
Analysis of 20 patients in this study, and five previously reported patients, revealed a core clinical phenotype comprising severe developmental delay/intellectual disability, severe postnatal microcephaly, often associated with growth retardation, (axial) hypotonia with o …
Analysis of 20 patients in this study, and five previously reported patients, revealed a core clinical phenotype comprising severe developme …
A new small supernumerary marker chromosome involving 14pter q12 in a child with severe neurodevelopmental retardation: case report and literature review.
Qi M, Zhao Y, Wang Y, Li T. Qi M, et al. Gene. 2013 Dec 1;531(2):457-61. doi: 10.1016/j.gene.2013.08.084. Epub 2013 Sep 5. Gene. 2013. PMID: 24013083 Review.
We hereby report on a new sSMC derived from chromosome 14, generating trisomy 14pter q12 in a child with severe neurodevelopmental delay. The patient featured facial dysmorphism, generalized hypotonia, transverse palmar creases, structural brain …
We hereby report on a new sSMC derived from chromosome 14, generating trisomy 14pter q12 in a child with severe neurodevelopmental de …
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM. Knaus A, et al. Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5. Genome Med. 2018. PMID: 29310717 Free PMC article.
An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyperphosphatasia with mental retardation syndrome (HPMRS) and to distinguish them from another subset of GPIBDs, termed multiple congenital …
An elevated serum activity of alkaline phosphatase (AP), a GPI-linked enzyme, has been used to assign GPIBDs to the phenotypic series of hyp …
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.
Giacomini T, Scala M, Nobile G, Severino M, Tortora D, Nobili L, Accogli A, Torella A, Capra V, Mancardi MM, Nigro V; TUDP study group. Giacomini T, et al. Brain Dev. 2022 Aug;44(7):480-485. doi: 10.1016/j.braindev.2022.04.002. Epub 2022 Apr 20. Brain Dev. 2022. PMID: 35461703
BACKGROUND: Heterozygous POLR2A variants have been recently reported in patients with a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia. ...CASE PRESENTATION: We investigated a 12-year-old girl presenting with an early-onset encephalo …
BACKGROUND: Heterozygous POLR2A variants have been recently reported in patients with a neurodevelopmental syndrome characterized by …
18 results