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Items: 1 to 20 of 343

1.

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Froukh T, Nafie O, Al Hait SAS, Laugwitz L, Sommerfeld J, Sturm M, Baraghiti A, Issa T, Al-Nazer A, Koch PA, Hanselmann J, Kootz B, Bauer P, Al-Ameri W, Abou Jamra R, Alfrook AJ, Hamadallah M, Sofan L, Riess A, Haack TB, Riess O, Buchert R.

Clin Genet. 2020 Feb 14. doi: 10.1111/cge.13720. [Epub ahead of print]

PMID:
32056211
2.

Stromal Vascular Fraction and its Role in the Management of Alopecia: A Review.

Stefanis AJ, Groh T, Arenbergerova M, Arenberger P, Bauer PO.

J Clin Aesthet Dermatol. 2019 Nov;12(11):35-44. Epub 2019 Nov 1. Review.

3.

Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.

AlMuhaizea M, AlMass R, AlHargan A, AlBader A, Medico Salsench E, Howaidi J, Ihinger J, Karachunski P, Begtrup A, Segura Castell M, Bauer P, Bertoli-Avella A, Kaya IH, AlSufayan J, AlQuait L, Chedrawi A, Arold ST, Colak D, Barakat TS, Kaya N.

Acta Neuropathol. 2020 Jan 31. doi: 10.1007/s00401-020-02128-8. [Epub ahead of print] No abstract available.

PMID:
32006098
4.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B.

Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7.

5.

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.

Mayer AK, Balousha G, Sharkia R, Mahajnah M, Ayesh S, Schulze M, Buchert R, Zobor D, Azem A, Schöls L, Bauer P, Wissinger B.

Eur J Hum Genet. 2020 Jan 2. doi: 10.1038/s41431-019-0566-3. [Epub ahead of print]

PMID:
31896775
6.

High mutational burden in colorectal carcinomas with monoallelic POLE mutations: absence of allelic loss and gene promoter methylation.

Hühns M, Nürnberg S, Kandashwamy KK, Maletzki C, Bauer P, Prall F.

Mod Pathol. 2019 Dec 19. doi: 10.1038/s41379-019-0430-6. [Epub ahead of print]

PMID:
31857678
7.

VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AW.

Clin Genet. 2019 Dec 17. doi: 10.1111/cge.13690. [Epub ahead of print]

PMID:
31845315
8.

Novel clinical and genetic insight into CXorf56-associated intellectual disability.

Rocha ME, Silveira TRD, Sasaki E, Sás DM, Lourenço CM, Kandaswamy KK, Beetz C, Rolfs A, Bauer P, Reardon W, Bertoli-Avella AM.

Eur J Hum Genet. 2020 Mar;28(3):367-372. doi: 10.1038/s41431-019-0558-3. Epub 2019 Dec 10.

PMID:
31822863
9.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Perenthaler E, Nikoncuk A, Yousefi S, Berdowski WM, Alsagob M, Capo I, van der Linde HC, van den Berg P, Jacobs EH, Putar D, Ghazvini M, Aronica E, van IJcken WFJ, de Valk WG, Medici-van den Herik E, van Slegtenhorst M, Brick L, Kozenko M, Kohler JN, Bernstein JA, Monaghan KG, Begtrup A, Torene R, Al Futaisi A, Al Murshedi F, Mani R, Al Azri F, Kamsteeg EJ, Mojarrad M, Eslahi A, Khazaei Z, Darmiyan FM, Doosti M, Karimiani EG, Vandrovcova J, Zafar F, Rana N, Kandaswamy KK, Hertecant J, Bauer P, AlMuhaizea MA, Salih MA, Aldosary M, Almass R, Al-Quait L, Qubbaj W, Coskun S, Alahmadi KO, Hamad MHA, Alwadaee S, Awartani K, Dababo AM, Almohanna F, Colak D, Dehghani M, Mehrjardi MYV, Gunel M, Ercan-Sencicek AG, Passi GR, Cheema HA, Efthymiou S, Houlden H, Bertoli-Avella AM, Brooks AS, Retterer K, Maroofian R, Kaya N, van Ham TJ, Barakat TS.

Acta Neuropathol. 2019 Dec 9. doi: 10.1007/s00401-019-02109-6. [Epub ahead of print]

PMID:
31820119
10.

A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.

Al-Kindi A, Al-Shehhi M, Westenberger A, Beetz C, Scott P, Brandau O, Abbasi-Moheb L, Yüksel Z, Bauer P, Rolfs A, Grüning NM.

J Hum Genet. 2020 Jan;65(2):193-197. doi: 10.1038/s10038-019-0693-2. Epub 2019 Nov 26.

PMID:
31767933
11.

Substrate reduction therapy for GBA1-associated Parkinsonism: Are we betting on the wrong mouse?

Sidransky E, Arkadir D, Bauer P, Dinur T, Lopez G, Rolfs A, Zimran A.

Mov Disord. 2020 Feb;35(2):228-230. doi: 10.1002/mds.27903. Epub 2019 Nov 11. No abstract available.

PMID:
31710399
12.

Residues of acidic chitinase cause chitinolytic activity degrading chitosan in porcine pepsin preparations.

Tabata E, Wakita S, Kashimura A, Sugahara Y, Matoska V, Bauer PO, Oyama F.

Sci Rep. 2019 Oct 30;9(1):15609. doi: 10.1038/s41598-019-52136-2.

13.

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.

Feng X, Cozma C, Pantoom S, Hund C, Iwanov K, Petters J, Völkner C, Bauer C, Vogel F, Bauer P, Weiss FU, Lerch MM, Knospe AM, Hermann A, Frech MJ, Luo J, Rolfs A, Lukas J.

Int J Mol Sci. 2019 Oct 19;20(20). pii: E5185. doi: 10.3390/ijms20205185.

14.

Neurons Induced From Fibroblasts of c9ALS/FTD Patients Reproduce the Pathology Seen in the Central Nervous System.

Bauer PO, Dunmore JH, Sasaguri H, Matoska V.

Front Neurosci. 2019 Sep 6;13:935. doi: 10.3389/fnins.2019.00935. eCollection 2019.

15.

Reintroducing Heart Sounds for Early Detection of Acute Myocardial Ischemia in a Porcine Model - Correlation of Acoustic Cardiography With Gold Standard of Pressure-Volume Analysis.

Luciani M, Saccocci M, Kuwata S, Cesarovic N, Lipiski M, Arand P, Bauer P, Guidotti A, Regar E, Erne P, Zuber M, Maisano F.

Front Physiol. 2019 Aug 22;10:1090. doi: 10.3389/fphys.2019.01090. eCollection 2019.

16.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
17.

Time of Day and its Association with Risk of Death and Chance of Discharge in Critically Ill Patients: A Retrospective Study.

Zajic P, Bauer P, Rhodes A, Moreno R, Fellinger T, Metnitz B, Posch M, Metnitz PGH.

Sci Rep. 2019 Aug 29;9(1):12533. doi: 10.1038/s41598-019-48947-y.

18.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A.

Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5.

19.

Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.

Greenbaum L, Pode-Shakked B, Eisenberg-Barzilai S, Dicastro-Keidar M, Bar-Ziv A, Goldstein N, Reznik-Wolf H, Poran H, Rigbi A, Barel O, Bertoli-Avella AM, Bauer P, Regev M, Raas-Rothschild A, Pras E, Berkenstadt M.

Front Genet. 2019 Jun 25;10:425. doi: 10.3389/fgene.2019.00425. eCollection 2019.

20.

Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.

Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C.

BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0.

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