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Search life-sciences literature (45,104,145 articles, preprints and more)

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Brain malformations and seizures by impaired chaperonin function of TRiC.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, [...] Kurth I
Science, 386(6721):516-525, 31 Oct 2024
Cited by: 0 articles | PMID: 39480921
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Recognisable Neuroradiological Findings in Five Neurogenetic Disorders.
Rosenblum J, Meuwissen M, Jansen AC, Oegema R, Reddy N, Mankad K, Sudhakar S
Clin Genet, 27 Oct 2024
Cited by: 0 articles | PMID: 39462795
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Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.
RIJCKMANS E, De Strooper LP, Keymolen K, Rosenblum J, Loeys B, Meuwissen M, Jansen AC, Stouffs K
Research Square, 28 Oct 2024
Cited by: 0 articles | PPR: PPR932067
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RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.
Rosenblum J, Beysen D, Jansen AC, De Rademaeker M, Reyniers E, Janssens K, Meuwissen M
Clin Genet, 21 Oct 2024
Cited by: 0 articles | PMID: 39434505
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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, [...] Mankad K
Brain, 147(8):2775-2790, 01 Aug 2024
Cited by: 1 article | PMID: 38456468 | PMCID: PMC11292905
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Prenatal assessment of brain malformations on neuroimaging: an expert panel review.
Pogledic I, Mankad K, Severino M, Lerman-Sagie T, Jakab A, Hadi E, Jansen AC, Bahi-Buisson N, Di Donato N, Oegema R, Mitter C, Capo I, Whitehead MT, Haldipur P, Mancini G, Huisman TAGM, Righini A, Dobyns B, Barkovich JA, [...] Lequin M
Brain, awae253, 26 Jul 2024
Cited by: 0 articles | PMID: 39054600
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Diagnostic work-up in malformations of cortical development.
Rijckmans E, Stouffs K, Jansen AC
Dev Med Child Neurol, 66(8):974-989, 23 Feb 2024
Cited by: 0 articles | PMID: 38394064
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, [...] Héron D
J Med Genet, 61(2):103-108, 19 Jan 2024
Cited by: 1 article | PMID: 37879892
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Macrocephaly? Do not Forget SUFU.
Rijckmans E, Bordon V, de Ravel T, Baert E, Jansen AC, Stouffs K
Pediatr Neurol, 151:34-36, 25 Nov 2023
Cited by: 0 articles | PMID: 38101305
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Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Huschner F, Głowacka-Walas J, Mills JD, Klonowska K, Lasseter K, Asara JM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Petrák B, van Scheppingen J, Zamecnik J, Iyer A, [...] Kwiatkowski DJ
Nat Commun, 14(1):7664, 23 Nov 2023
Cited by: 3 articles | PMID: 37996417 | PMCID: PMC10667269
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Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
Müller AR, Luijten MAJ, Haverman L, de Ranitz-Greven WL, Janssens P, Rietman AB, Hoopen LWT, de Graaff LCG, de Wit MC, Jansen AC, Gipson T, Capal JK, de Vries PJ, van Eeghen AM
BMC Med, 21(1):401, 23 Oct 2023
Cited by: 0 articles | PMID: 37872559 | PMCID: PMC10594910
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Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome.
Rosenblum J, Van der Veeken L, Aertsen M, Meuwissen M, Jansen AC
Eur J Med Genet, 66(11):104855, 25 Sep 2023
Cited by: 1 article | PMID: 37758165
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Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
Müller AR, Luijten MAJ, Haverman L, de Ranitz-Greven WL, Janssens P, Rietman AB, Ten Hoopen LW, de Graaff LCG, de Wit MC, Jansen AC, Gipson T, Capal JK, de Vries PJ, van Eeghen AM
BMC Med, 21(1):298, 08 Aug 2023
Cited by: 5 articles | PMID: 37553648 | PMCID: PMC10408092
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International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).
de Vries PJ, Heunis TM, Vanclooster S, Chambers N, Bissell S, Byars AW, Flinn J, Gipson TT, van Eeghen AM, Waltereit R, Capal JK, Cukier S, Davis PE, Smith C, Kingswood JC, Schoeters E, Srivastava S, Takei M, Gardner-Lubbe S, [...] Jansen AC
J Neurodev Disord, 15(1):32, 14 Sep 2023
Cited by: 9 articles | PMID: 37710171 | PMCID: PMC10503032
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Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).
Heunis TM, Chambers N, Vanclooster S, Bissell S, Byars AW, Capal JK, Cukier S, Davis PE, de Vries MC, De Waele L, Flinn J, Gardner-Lubbe S, Gipson T, Kingswood JC, Krueger DA, Kumm AJ, Sahin M, Schoeters E, Smith C, [...] de Vries PJ
Pediatr Neurol, 147:101-123, 07 Jul 2023
Cited by: 5 articles | PMID: 37598571 | PMCID: PMC11287794
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Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.
Mangodt TC, Vanden Driessche K, Norga KK, Moes N, De Bruyne M, Haerynck F, Bordon V, Jansen AC, Jonckheere AI
BMC Pediatr, 23(1):353, 13 Jul 2023
Cited by: 3 articles | PMID: 37443020 | PMCID: PMC10339488
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Metachromatic leukodystrophy: To screen or not to screen?
Jonckheere AI, Kingma SDK, Eyskens F, Bordon V, Jansen AC
Eur J Paediatr Neurol, 46:1-7, 19 Jun 2023
Cited by: 2 articles | PMID: 37354699
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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, [...] Millard TH
Brain, 145(12):4232-4245, 01 Dec 2022
Cited by: 8 articles | PMID: 35139179 | PMCID: PMC9762944
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Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases - a proof of concept study.
Ha MK, Bartholomeus E, Van Os L, Dandelooy J, Leysen J, Aerts O, Siozopoulou V, De Smet E, Gielen J, Guerti K, De Maeseneer M, Herregods N, Lechkar B, Wittoek R, Geens E, Claes L, Zaqout M, Dewals W, Lemay A, [...] Ogunjimi B
Pediatr Rheumatol Online J, 20(1):91, 17 Oct 2022
Cited by: 2 articles | PMID: 36253751 | PMCID: PMC9575227
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miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.
Scheper M, Romagnolo A, Besharat ZM, Iyer AM, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Petrak B, Maulisova A, Nabbout R, Jansen AC, Jansen FE, Lagae L, Urbanska M, Ferretti E, Tempes A, [...] Epistop Consortium Members
Biomedicines, 10(8):1838, 29 Jul 2022
Cited by: 4 articles | PMID: 36009385 | PMCID: PMC9405248
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Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children.
Bouw N, Swaab H, Tartaglia N, Jansen AC, van Rijn S
Am J Med Genet A, 188(7):1943-1953, 14 Mar 2022
Cited by: 3 articles | PMID: 35285124 | PMCID: PMC9311155
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The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.
Vanclooster S, Bissell S, van Eeghen AM, Chambers N, De Waele L, Byars AW, Capal JK, Cukier S, Davis P, Flinn J, Gardner-Lubbe S, Gipson T, Heunis TM, Hook D, Kingswood JC, Krueger DA, Kumm AJ, Sahin M, Schoeters E, [...] de Vries PJ
J Neurodev Disord, 14(1):13, 13 Feb 2022
Cited by: 10 articles | PMID: 35151277 | PMCID: PMC8853020
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Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem).
Heunis TM, Bissell S, Byars AW, Capal JK, Chambers N, Cukier S, Davis PE, De Waele L, Flinn J, Gardner-Lubbe S, Gipson T, Kingswood JC, Krueger DA, Kumm AJ, Sahin M, Schoeters E, Smith C, Srivastava S, Takei M, [...] de Vries PJ
Front Psychiatry, 13:834628, 28 Feb 2022
Cited by: 7 articles | PMID: 35295772 | PMCID: PMC8919327
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Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S, Laquerriere A, Marguet F, Myers SJ, Hongjie Y, Baralle D, Vanderhasselt T, Stouffs K, Keymolen K, Kim S, Allen J, Shaulsky G, Chelly J, Marcorelle P, Aziza J, Villard L, Sacaze E, de Wit MCY, Wilke M, [...] Bahi-Buisson N
J Med Genet, 60(2):183-192, 07 Apr 2022
Cited by: 3 articles | PMID: 35393335 | PMCID: PMC10642159
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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Maia N, Potelle S, Yildirim H, Duvet S, Akula SK, Schulz C, Wiame E, Gheldof A, O'Kane K, Lai A, Sermon K, Proisy M, Loget P, Attié-Bitach T, Quelin C, Fortuna AM, Soares AR, de Brouwer APM, Van Schaftingen E, [...] Foulquier F
Am J Hum Genet, 109(2):345-360, 18 Jan 2022
Cited by: 4 articles | PMID: 35045343 | PMCID: PMC8874227
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1-25 of 119 results

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Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Brain malformations and seizures by impaired chaperonin function of TRiC.

Recognisable Neuroradiological Findings in Five Neurogenetic Disorders.

Counseling individuals with pathogenic loss-of-function variants in FLNA – learning points from a cross-sectional cohort study.

RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Diagnostic work-up in malformations of cortical development.

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Macrocephaly? Do not Forget SUFU.

Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.

Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome.

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).

Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.

Metachromatic leukodystrophy: To screen or not to screen?

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

Blood transcriptomics to facilitate diagnosis and stratification in pediatric rheumatic diseases - a proof of concept study.

miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.

Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children.

The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.

Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem).

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

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