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Items: 1 to 20 of 68

1.

Post-zygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum.

Tewari A, Alarcon L, Gordon K, Mansour S, Akhras V.

Br J Dermatol. 2019 Feb 22. doi: 10.1111/bjd.17823. [Epub ahead of print]

PMID:
30801665
2.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S.

Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8.

PMID:
30622331
3.

A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE).

Mansour S, Baple E, Hall CM.

J Hand Surg Eur Vol. 2019 Jan;44(1):96-108. doi: 10.1177/1753193418800631. Epub 2018 Sep 25.

PMID:
30253685
4.

A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon.

Nadarajah N, Schulte D, McConnell V, Martin-Almedina S, Karapouliou C, Mortimer PS, Jeffery S, Schulte-Merker S, Gordon K, Mansour S, Ostergaard P.

Int J Mol Sci. 2018 Aug 1;19(8). pii: E2259. doi: 10.3390/ijms19082259.

5.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.

Chandler N, Best S, Hayward J, Faravelli F, Mansour S, Kivuva E, Tapon D, Male A, DeVile C, Chitty LS.

Genet Med. 2018 Nov;20(11):1430-1437. doi: 10.1038/gim.2018.30. Epub 2018 Mar 29.

PMID:
29595812
6.

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

Al-Olabi L, Polubothu S, Dowsett K, Andrews KA, Stadnik P, Joseph AP, Knox R, Pittman A, Clark G, Baird W, Bulstrode N, Glover M, Gordon K, Hargrave D, Huson SM, Jacques TS, James G, Kondolf H, Kangesu L, Keppler-Noreuil KM, Khan A, Lindhurst MJ, Lipson M, Mansour S, O'Hara J, Mahon C, Mosica A, Moss C, Murthy A, Ong J, Parker VE, Rivière JB, Sapp JC, Sebire NJ, Shah R, Sivakumar B, Thomas A, Virasami A, Waelchli R, Zeng Z, Biesecker LG, Barnacle A, Topf M, Semple RK, Patton EE, Kinsler VA.

J Clin Invest. 2018 Apr 2;128(4):1496-1508. doi: 10.1172/JCI98589. Epub 2018 Mar 12.

7.

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Martin-Almedina S, Mansour S, Ostergaard P.

J Physiol. 2018 Mar 15;596(6):985-992. doi: 10.1113/JP275718. Epub 2018 Jan 31.

8.

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester.

Ramachandrappa S, Kulkarni A, Gandhi H, Ellis C, Hutt R, Roberts L, Hamid R, Papageorghiou A, Mansour S.

Eur J Hum Genet. 2018 Mar;26(3):350-358. doi: 10.1038/s41431-017-0080-4. Epub 2018 Jan 12.

9.

An approach to familial lymphoedema.

Jones GE, Mansour S.

Clin Med (Lond). 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. Review.

10.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S.

Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28.

11.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2.

12.

Detection of structural mosaicism from targeted and whole-genome sequencing data.

King DA, Sifrim A, Fitzgerald TW, Rahbari R, Hobson E, Homfray T, Mansour S, Mehta SG, Shehla M, Tomkins SE, Vasudevan PC, Hurles ME; Deciphering Developmental Disorders Study.

Genome Res. 2017 Oct;27(10):1704-1714. doi: 10.1101/gr.212373.116. Epub 2017 Aug 30.

13.

VIPAR, a quantitative approach to 3D histopathology applied to lymphatic malformations.

Hägerling R, Drees D, Scherzinger A, Dierkes C, Martin-Almedina S, Butz S, Gordon K, Schäfers M, Hinrichs K, Ostergaard P, Vestweber D, Goerge T, Mansour S, Jiang X, Mortimer PS, Kiefer F.

JCI Insight. 2017 Aug 17;2(16). pii: 93424. doi: 10.1172/jci.insight.93424. eCollection 2017 Aug 17.

14.

Human venous valve disease caused by mutations in FOXC2 and GJC2.

Lyons O, Saha P, Seet C, Kuchta A, Arnold A, Grover S, Rashbrook V, Sabine A, Vizcay-Barrena G, Patel A, Ludwinski F, Padayachee S, Kume T, Kwak BR, Brice G, Mansour S, Ostergaard P, Mortimer P, Jeffery S, Brown N, Makinen T, Petrova TV, Modarai B, Smith A.

J Exp Med. 2017 Jul 19. pii: jem.20160875. doi: 10.1084/jem.20160875. [Epub ahead of print]

15.

Renal anomalies and lymphedema distichiasis syndrome. A rare association?

Jones GE, Richmond AK, Navti O, Mousa HA, Abbs S, Thompson E, Mansour S, Vasudevan PC.

Am J Med Genet A. 2017 Aug;173(8):2251-2256. doi: 10.1002/ajmg.a.38293. Epub 2017 May 23.

PMID:
28544699
16.

Abnormal Rab11-Rab8-vesicles cluster in enterocytes of patients with microvillus inclusion disease.

Vogel GF, Janecke AR, Krainer IM, Gutleben K, Witting B, Mitton SG, Mansour S, Ballauff A, Roland JT, Engevik AC, Cutz E, Müller T, Goldenring JR, Huber LA, Hess MW.

Traffic. 2017 Jul;18(7):453-464. doi: 10.1111/tra.12486. Epub 2017 May 17.

17.

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Pagnamenta AT, Murakami Y, Taylor JM, Anzilotti C, Howard MF, Miller V, Johnson DS, Tadros S, Mansour S, Temple IK, Firth R, Rosser E, Harrison RE, Kerr B, Popitsch N; DDD Study, Kinoshita T, Taylor JC, Kini U.

Eur J Hum Genet. 2017 Jun;25(6):669-679. doi: 10.1038/ejhg.2017.32. Epub 2017 Mar 22.

18.

Surgical anatomy, radiological features, and molecular biology of the lumbar intervertebral discs.

Ghannam M, Jumah F, Mansour S, Samara A, Alkhdour S, Alzuabi MA, Aker L, Adeeb N, Massengale J, Oskouian RJ, Tubbs RS.

Clin Anat. 2017 Mar;30(2):251-266. doi: 10.1002/ca.22822. Epub 2017 Feb 9. Review.

PMID:
27997062
19.

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

Hull S, Malik AN, Arno G, Mackay DS, Plagnol V, Michaelides M, Mansour S, Albanese A, Brown KT, Holder GE, Webster AR, Heath PT, Moore AT.

JAMA Ophthalmol. 2016 Sep 1;134(9):1049-53. doi: 10.1001/jamaophthalmol.2015.5833.

PMID:
27389523
20.

Gastric leiomyoma in a child with Gorlin-Goltz syndrome: First pediatric case.

Virgone C, Decker E, Mitton SG, Mansour S, Giuliani S.

Pediatr Int. 2016 Apr;58(4):298-300. doi: 10.1111/ped.12772. Epub 2015 Nov 16.

PMID:
26567923

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