BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

159 related articles for article (PubMed ID: 34585832)

  • 1. Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
    Daum H; Ganapathi M; Hirsch Y; Griffin EL; LeDuc CA; Hagen J; Yagel S; Meiner V; Chung WK; Mor-Shaked H
    Am J Med Genet A; 2022 Jan; 188(1):336-342. PubMed ID: 34585832
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biallelic variants in
    Dentici ML; Alesi V; Quinodoz M; Robens B; Guerin A; Lebon S; Poduri A; Travaglini L; Graziola F; Afenjar A; Keren B; Licursi V; Capuano A; Dallapiccola B; Superti-Furga A; Novelli A
    J Med Genet; 2022 Mar; 59(3):262-269. PubMed ID: 33397746
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
    Klöckner C; Fernández-Murray JP; Tavasoli M; Sticht H; Stoltenburg-Didinger G; Scholle LM; Bakhtiari S; Kruer MC; Darvish H; Firouzabadi SG; Pagnozzi A; Shukla A; Girisha KM; Narayanan DL; Kaur P; Maroofian R; Zaki MS; Noureldeen MM; Merkenschlager A; Gburek-Augustat J; Cali E; Banu S; Nahar K; Efthymiou S; Houlden H; Jamra RA; Williams J; McMaster CR; Platzer K
    Brain; 2022 Jun; 145(6):1916-1923. PubMed ID: 35202461
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
    Rosenhahn E; O'Brien TJ; Zaki MS; Sorge I; Wieczorek D; Rostasy K; Vitobello A; Nambot S; Alkuraya FS; Hashem MO; Alhashem A; Tabarki B; Alamri AS; Al Safar AH; Bubshait DK; Alahmady NF; Gleeson JG; Abdel-Hamid MS; Lesko N; Ygberg S; Correia SP; Wredenberg A; Alavi S; Seyedhassani SM; Ebrahimi Nasab M; Hussien H; Omar TEI; Harzallah I; Touraine R; Tajsharghi H; Morsy H; Houlden H; Shahrooei M; Ghavideldarestani M; Abdel-Salam GMH; Torella A; Zanobio M; Terrone G; Brunetti-Pierri N; Omrani A; Hentschel J; Lemke JR; Sticht H; Abou Jamra R; Brown AEX; Maroofian R; Platzer K
    Am J Hum Genet; 2022 Aug; 109(8):1421-1435. PubMed ID: 35830857
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    Mitani T; Punetha J; Akalin I; Pehlivan D; Dawidziuk M; Coban Akdemir Z; Yilmaz S; Aslan E; Hunter JV; Hijazi H; Grochowski CM; Jhangiani SN; Karaca E; Fatih JM; Iwanowski P; Gambin T; Wlasienko P; Goszczanska-Ciuchta A; Bekiesinska-Figatowska M; Hosseini M; Arzhangi S; Najmabadi H; Rosenfeld JA; Du H; Marafi D; Blaser S; Teitelbaum R; Silver R; ; Posey JE; Ropers HH; Gibbs RA; Wiszniewski W; Lupski JR; Chitayat D; Kahrizi K; Gawlinski P
    Am J Hum Genet; 2019 Nov; 105(5):1005-1015. PubMed ID: 31630790
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
    Marafi D; Mitani T; Isikay S; Hertecant J; Almannai M; Manickam K; Abou Jamra R; El-Hattab AW; Rajah J; Fatih JM; Du H; Karaca E; Bayram Y; Punetha J; Rosenfeld JA; Jhangiani SN; Boerwinkle E; Akdemir ZC; Erdin S; Hunter JV; Gibbs RA; Pehlivan D; Posey JE; Lupski JR
    Ann Clin Transl Neurol; 2020 May; 7(5):610-627. PubMed ID: 32286009
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy.
    Fichera M; Failla P; Saccuzzo L; Miceli M; Salvo E; Castiglia L; Galesi O; Grillo L; Calì F; Greco D; Amato C; Romano C; Elia M
    Hum Genet; 2019 Feb; 138(2):187-198. PubMed ID: 30656450
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.
    Kaiyrzhanov R; Rad A; Lin SJ; Bertoli-Avella A; Kallemeijn WW; Godwin A; Zaki MS; Huang K; Lau T; Petree C; Efthymiou S; Karimiani EG; Hempel M; Normand EA; Rudnik-Schöneborn S; Schatz UA; Baggelaar MP; Ilyas M; Sultan T; Alvi JR; Ganieva M; Fowler B; Aanicai R; Tayfun GA; Al Saman A; Alswaid A; Amiri N; Asilova N; Shotelersuk V; Yeetong P; Azam M; Babaei M; Monajemi GB; Mohammadi P; Samie S; Banu SH; Pinto Basto J; Kortüm F; Bauer M; Bauer P; Beetz C; Garshasbi M; Issa AH; Eyaid W; Ahmed H; Hashemi N; Hassanpour K; Herman I; Ibrohimov S; Abdul-Majeed BA; Imdad M; Isrofilov M; Kaiyal Q; Khan S; Kirmse B; Koster J; Lourenço CM; Mitani T; Moldovan O; Murphy D; Najafi M; Pehlivan D; Rocha ME; Salpietro V; Schmidts M; Shalata A; Mahroum M; Talbeya JK; Taylor RW; Vazquez D; Vetro A; Waterham HR; Zaman M; Schrader TA; Chung WK; Guerrini R; Lupski JR; Gleeson J; Suri M; Jamshidi Y; Bhatia KP; Vona B; Schrader M; Severino M; Guille M; Tate EW; Varshney GK; Houlden H; Maroofian R
    Brain; 2024 Apr; 147(4):1436-1456. PubMed ID: 37951597
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
    Stephen J; Maddirevula S; Nampoothiri S; Burke JD; Herzog M; Shukla A; Steindl K; Eskin A; Patil SJ; Joset P; Lee H; Garrett LJ; Yokoyama T; Balanda N; Bodine SP; Tolman NJ; Zerfas PM; Zheng A; Ramantani G; Girisha KM; Rivas C; Suresh PV; Elkahloun A; Alsaif HS; Wakil SM; Mahmoud L; Ali R; Prochazkova M; ; Kulkarni AB; Ben-Omran T; Colak D; Morris HD; Rauch A; Martinez-Agosto JA; Nelson SF; Alkuraya FS; Gahl WA; Malicdan MCV
    Am J Hum Genet; 2018 Dec; 103(6):948-967. PubMed ID: 30526868
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
    Al-Maawali A; Barry BJ; Rajab A; El-Quessny M; Seman A; Coury SN; Barkovich AJ; Yang E; Walsh CA; Mochida GH; Stoler JM
    Am J Med Genet A; 2016 Feb; 170A(2):435-440. PubMed ID: 26463574
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
    Iqbal M; Maroofian R; Çavdarlı B; Riccardi F; Field M; Banka S; Bubshait DK; Li Y; Hertecant J; Baig SM; Dyment D; Efthymiou S; Abdullah U; Makhdoom EUH; Ali Z; Scherf de Almeida T; Molinari F; Mignon-Ravix C; Chabrol B; Antony J; Ades L; Pagnamenta AT; Jackson A; Douzgou S; ; Beetz C; Karageorgou V; Vona B; Rad A; Baig JM; Sultan T; Alvi JR; Maqbool S; Rahman F; Toosi MB; Ashrafzadeh F; Imannezhad S; Karimiani EG; Sarwar Y; Khan S; Jameel M; Noegel AA; Budde B; Altmüller J; Motameny S; Höhne W; Houlden H; Nürnberg P; Wollnik B; Villard L; Alkuraya FS; Osmond M; Hussain MS; Yigit G
    Genet Med; 2021 Nov; 23(11):2138-2149. PubMed ID: 34244665
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
    Yap ZY; Efthymiou S; Seiffert S; Vargas Parra K; Lee S; Nasca A; Maroofian R; Schrauwen I; Pendziwiat M; Jung S; Bhoj E; Striano P; Mankad K; Vona B; Cuddapah S; Wagner A; Alvi JR; Davoudi-Dehaghani E; Fallah MS; Gannavarapu S; Lamperti C; Legati A; Murtaza BN; Nadeem MS; Rehman MU; Saeidi K; Salpietro V; von Spiczak S; Sandoval A; Zeinali S; Zeviani M; Reich A; ; ; Jang C; Helbig I; Barakat TS; Ghezzi D; Leal SM; Weber Y; Houlden H; Yoon WH
    Am J Hum Genet; 2021 Dec; 108(12):2368-2384. PubMed ID: 34800363
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.
    Bijarnia-Mahay S; Somashekar PH; Kaur P; Kulshrestha S; Ramprasad VL; Murugan S; Sud S; Shukla A
    J Hum Genet; 2022 Mar; 67(3):133-136. PubMed ID: 34621002
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel homozygous truncating variant in PPFIBP1 further delineates PPFIBP1-associated neurodevelopmental disorder.
    Waqas A; Liaqat R; Shaheen S; Khan AZ; Mujahid ; Habib AH; Binothman N; Aljadani M; Zehri Z; Shaheen S; Alkathiri A; Naz R; Umair M; Abbas S
    Int J Dev Neurosci; 2023 Apr; 83(2):191-200. PubMed ID: 36527195
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
    Salpietro V; Maroofian R; Zaki MS; Wangen J; Ciolfi A; Barresi S; Efthymiou S; Lamaze A; Aughey GN; Al Mutairi F; Rad A; Rocca C; Calì E; Accogli A; Zara F; Striano P; Mojarrad M; Tariq H; Giacopuzzi E; Taylor JC; Oprea G; Skrahina V; Rehman KU; Abd Elmaksoud M; Bassiony M; El Said HG; Abdel-Hamid MS; Al Shalan M; Seo G; Kim S; Lee H; Khang R; Issa MY; Elbendary HM; Rafat K; Marinakis NM; Traeger-Synodinos J; Ververi A; Sourmpi M; Eslahi A; Khadivi Zand F; Beiraghi Toosi M; Babaei M; Jackson A; ; Bertoli-Avella A; Pagnamenta AT; Niceta M; Battini R; Corsello A; Leoni C; Chiarelli F; Dallapiccola B; Faqeih EA; Tallur KK; Alfadhel M; Alobeid E; Maddirevula S; Mankad K; Banka S; Ghayoor-Karimiani E; Tartaglia M; Chung WK; Green R; Alkuraya FS; Jepson JEC; Houlden H
    Am J Hum Genet; 2024 Jan; 111(1):200-210. PubMed ID: 38118446
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant.
    Sedláčková L; Laššuthová P; Štěrbová K; Vlčková M; Kudr M; Buksakowska I; Staněk D; Seeman P
    Eur J Med Genet; 2021 Sep; 64(9):104263. PubMed ID: 34174466
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
    Calame DG; Bakhtiari S; Logan R; Coban-Akdemir Z; Du H; Mitani T; Fatih JM; Hunter JV; Herman I; Pehlivan D; Jhangiani SN; Person R; Schnur RE; Jin SC; Bilguvar K; Posey JE; Koh S; Firouzabadi SG; Alehabib E; Tafakhori A; Esmkhani S; Gibbs RA; Noureldeen MM; Zaki MS; Marafi D; Darvish H; Kruer MC; Lupski JR
    Genet Med; 2021 Dec; 23(12):2455-2460. PubMed ID: 34385670
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum.
    Karaer K; Karaer D; Yüksel Z; Işikay S
    Clin Dysmorphol; 2022 Oct; 31(4):167-173. PubMed ID: 36004946
    [TBL] [Abstract][Full Text] [Related]  

  • 19. YIF1B-related Kaya-Barakat-Masson Syndrome: Report of a new patient and literature review.
    Sanri A; Mutlu MB; Sezer O
    Eur J Med Genet; 2023 Jun; 66(6):104751. PubMed ID: 36948290
    [TBL] [Abstract][Full Text] [Related]  

  • 20. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
    Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
    Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.