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Items: 1 to 50 of 131

1.

18F-FDG PET-Based Imaging of Myocardial Inflammation Predicts a Functional Outcome Following Transplantation of mESC-Derived Cardiac Induced Cells in a Mouse Model of Myocardial Infarction.

Vasudevan P, Gaebel R, Doering P, Mueller P, Lemcke H, Stenzel J, Lindner T, Kurth J, Steinhoff G, Vollmar B, Krause BJ, Ince H, David R, Lang CI.

Cells. 2019 Dec 11;8(12). pii: E1613. doi: 10.3390/cells8121613.

2.

CD271+ Human Mesenchymal Stem Cells Show Antiarrhythmic Effects in a Novel Murine Infarction Model.

Sadraddin H, Gaebel R, Skorska A, Lux CA, Sasse S, Ahmad B, Vasudevan P, Steinhoff G, David R.

Cells. 2019 Nov 20;8(12). pii: E1474. doi: 10.3390/cells8121474.

3.

Benefits of non-invasive methods compared to telemetry for distress analysis in a murine model of pancreatic cancer.

Kumstel S, Vasudevan P, Palme R, Zhang X, Wendt EHU, David R, Vollmar B, Zechner D.

J Adv Res. 2019 Sep 14;21:35-47. doi: 10.1016/j.jare.2019.09.002. eCollection 2020 Mar.

4.

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Jackson A, Ward H, Bromley RL, Deshpande C, Vasudevan P, Scurr I, Dean J, Shannon N, Berg J, Holder S, Baralle D, Clayton-Smith J; DDD Study.

Arch Dis Child. 2020 Apr;105(4):384-389. doi: 10.1136/archdischild-2018-316547. Epub 2019 Sep 3.

PMID:
31481360
5.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.

Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18.

PMID:
31316167
6.

Materials and structures used in meniscus repair and regeneration: a review.

Vadodaria K, Kulkarni A, Santhini E, Vasudevan P.

Biomedicine (Taipei). 2019 Mar;9(1):2. doi: 10.1051/bmdcn/2019090102. Epub 2019 Feb 22.

7.

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jul;21(7):1667-1671. doi: 10.1038/s41436-019-0460-y.

PMID:
30783266
8.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC.

Am J Med Genet A. 2019 Apr;179(4):615-627. doi: 10.1002/ajmg.a.61073. Epub 2019 Feb 13.

9.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium.

Lancet. 2019 Feb 23;393(10173):747-757. doi: 10.1016/S0140-6736(18)31940-8. Epub 2019 Jan 31.

10.

Vimentin-Induced Cardiac Mesenchymal Stem Cells Proliferate in the Acute Ischemic Myocardium.

Klopsch C, Gaebel R, Lemcke H, Beyer M, Vasudevan P, Fang HY, Quante M, Vollmar B, Skorska A, David R, Steinhoff G.

Cells Tissues Organs. 2018;206(1-2):35-45. doi: 10.1159/000495527. Epub 2019 Jan 10.

PMID:
30630170
11.

Quantifying the contribution of recessive coding variation to developmental disorders.

Martin HC, Jones WD, McIntyre R, Sanchez-Andrade G, Sanderson M, Stephenson JD, Jones CP, Handsaker J, Gallone G, Bruntraeger M, McRae JF, Prigmore E, Short P, Niemi M, Kaplanis J, Radford EJ, Akawi N, Balasubramanian M, Dean J, Horton R, Hulbert A, Johnson DS, Johnson K, Kumar D, Lynch SA, Mehta SG, Morton J, Parker MJ, Splitt M, Turnpenny PD, Vasudevan PC, Wright M, Bassett A, Gerety SS, Wright CF, FitzPatrick DR, Firth HV, Hurles ME, Barrett JC; Deciphering Developmental Disorders Study.

Science. 2018 Dec 7;362(6419):1161-1164. doi: 10.1126/science.aar6731. Epub 2018 Nov 8.

12.

Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.

Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium, Boycott KM, Bastin P, Sheridan EG.

Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.

13.

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study, Kini U, Philippe C.

Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Review. Erratum in: Genet Med. 2019 Feb 20;:.

14.

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Nov;147:121. doi: 10.1016/j.eplepsyres.2018.07.019. Epub 2018 Aug 10. No abstract available.

PMID:
30104120
15.

Cancer Subtype Discovery Using Prognosis-Enhanced Neural Network Classifier in Multigenomic Data.

Vasudevan P, Murugesan T.

Technol Cancer Res Treat. 2018 Jan 1;17:1533033818790509. doi: 10.1177/1533033818790509.

16.

Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Papageorgiou E, Pilat A, Proudlock F, Lee H, Purohit R, Sheth V, Vasudevan P, Gottlob I.

Neurology. 2018 Aug 7;91(6):e571-e585. doi: 10.1212/WNL.0000000000005950. Epub 2018 Jul 11.

17.

Response.

Vasudevan PC, Suri M.

Clin Med (Lond). 2018 Mar;18(2):192. doi: 10.7861/clinmedicine.18-2-192. No abstract available.

18.

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Myers KA, White SM, Mohammed S, Metcalfe KA, Fry AE, Wraige E, Vasudevan PC, Balasubramanian M, Scheffer IE.

Epilepsy Res. 2018 Feb;140:166-170. doi: 10.1016/j.eplepsyres.2018.01.014. Epub 2018 Feb 3. Erratum in: Epilepsy Res. 2018 Aug 10;:.

PMID:
29367179
19.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

Cuvertino S, Stuart HM, Chandler KE, Roberts NA, Armstrong R, Bernardini L, Bhaskar S, Callewaert B, Clayton-Smith J, Davalillo CH, Deshpande C, Devriendt K, Digilio MC, Dixit A, Edwards M, Friedman JM, Gonzalez-Meneses A, Joss S, Kerr B, Lampe AK, Langlois S, Lennon R, Loget P, Ma DYT, McGowan R, Des Medt M, O'Sullivan J, Odent S, Parker MJ, Pebrel-Richard C, Petit F, Stark Z, Stockler-Ipsiroglu S, Tinschert S, Vasudevan P, Villa O, White SM, Zahir FR; DDD Study, Woolf AS, Banka S.

Am J Hum Genet. 2017 Dec 7;101(6):1021-1033. doi: 10.1016/j.ajhg.2017.11.006.

20.

A clinical approach to developmental delay and intellectual disability.

Vasudevan P, Suri M.

Clin Med (Lond). 2017 Dec;17(6):558-561. doi: 10.7861/clinmedicine.17-6-558. Review.

21.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA.

Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.

22.

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

Stals KL, Wakeling M, Baptista J, Caswell R, Parrish A, Rankin J, Tysoe C, Jones G, Gunning AC, Lango Allen H, Bradley L, Brady AF, Carley H, Carmichael J, Castle B, Cilliers D, Cox H, Deshpande C, Dixit A, Eason J, Elmslie F, Fry AE, Fryer A, Holder M, Homfray T, Kivuva E, McKay V, Newbury-Ecob R, Parker M, Savarirayan R, Searle C, Shannon N, Shears D, Smithson S, Thomas E, Turnpenny PD, Varghese V, Vasudevan P, Wakeling E, Baple EL, Ellard S.

Prenat Diagn. 2018 Jan;38(1):33-43. doi: 10.1002/pd.5175. Epub 2017 Dec 3.

23.

Stem cells and heart disease - Brake or accelerator?

Steinhoff G, Nesteruk J, Wolfien M, Große J, Ruch U, Vasudevan P, Müller P.

Adv Drug Deliv Rev. 2017 Oct 1;120:2-24. doi: 10.1016/j.addr.2017.10.007. Epub 2017 Oct 18. Review.

24.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study, Balasubramanian M.

Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25.

25.

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.

26.

Cortical Aquaporin-4 in relation to brain oedema and neurological function of cortical cryo-injured mice.

Gandham EJ, Vasudevan P, Moorthy RK, Narasimhan K, Murthy M, Rebekah G, Rajshekhar V.

J Clin Neurosci. 2017 Oct;44:294-299. doi: 10.1016/j.jocn.2017.05.001. Epub 2017 Jun 20.

PMID:
28645746
27.

Intrauterine death following intraamniotic triiodothyronine and thyroxine therapy for fetal goitrous hypothyroidism associated with polyhydramnios and caused by a thyroglobulin mutation.

Vasudevan P, Powell C, Nicholas AK, Scudamore I, Greening J, Park SM, Schoenmakers N.

Endocrinol Diabetes Metab Case Rep. 2017 Jun 7;2017. pii: 17-0040. doi: 10.1530/EDM-17-0040. eCollection 2017.

28.

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
29.

Author Response: Possibility of Cytoplasmic Transportation Between Donor-Host Cell Following Photoreceptor Transplantation.

Santos-Ferreira T, Völkner M, Borsch O, Haas J, Cimalla P, Vasudevan P, Carmeliet P, Corbeil D, Michalakis S, Koch E, Karl MO, Ader M.

Invest Ophthalmol Vis Sci. 2016 Oct 1;57(13):5336-5337. doi: 10.1167/iovs.16-20687. No abstract available.

PMID:
27727397
30.

Sodium Intake, Blood Pressure, and Dietary Sources of Sodium in an Adult South Indian Population.

Ravi S, Bermudez OI, Harivanzan V, Kenneth Chui KH, Vasudevan P, Must A, Thanikachalam S, Thanikachalam M.

Ann Glob Health. 2016 Mar-Apr;82(2):234-42. doi: 10.1016/j.aogh.2016.02.001.

31.

Stem Cell-Derived Photoreceptor Transplants Differentially Integrate Into Mouse Models of Cone-Rod Dystrophy.

Santos-Ferreira T, Völkner M, Borsch O, Haas J, Cimalla P, Vasudevan P, Carmeliet P, Corbeil D, Michalakis S, Koch E, Karl MO, Ader M.

Invest Ophthalmol Vis Sci. 2016 Jun 1;57(7):3509-20. doi: 10.1167/iovs.16-19087.

PMID:
27367586
32.

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA, Itin P, Heinimann K, Ahmed M, Ashraf T, Fryssira H, Kini U, Lapunzina P, Miny P, Sommerlund M, Suri M, Vaeth S, Vasudevan P, Gallati S.

Mol Genet Genomic Med. 2016 Feb 24;4(3):359-66. doi: 10.1002/mgg3.209. eCollection 2016 May.

33.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L; DDD study, Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ, Sistermans EA.

J Med Genet. 2016 Aug;53(8):523-32. doi: 10.1136/jmedgenet-2015-103601. Epub 2016 Apr 13.

PMID:
27075013
34.

Comparison of gadoxetic acid to gadobenate dimeglumine for assessment of biliary anatomy of potential liver donors.

Lewis S, Vasudevan P, Chatterji M, Besa C, Jajamovich G, Facciuto M, Taouli B.

Abdom Radiol (NY). 2016 Jul;41(7):1300-9. doi: 10.1007/s00261-016-0693-z.

PMID:
26960727
35.

14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability.

Jones GE, Robertson L, Warman P, Craft EV, Cresswell L, Vasudevan PC.

Ophthalmic Genet. 2016 Sep;37(3):352-3. doi: 10.3109/13816810.2015.1059463. Epub 2016 Feb 9. No abstract available.

PMID:
26860946
36.

Non-invasive prediction of portal pressures using CT and MRI in chronic liver disease.

Kihira S, Kagen AC, Vasudevan P, Jajamovich GH, Schiano TD, Andrle AF, Babb JS, Fischman A, Taouli B.

Abdom Radiol (NY). 2016 Jan;41(1):42-9. doi: 10.1007/s00261-015-0614-6.

PMID:
26830610
37.

Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome.

Jones GE, Robertson L, Maniyar A, Shammas C, Phelan MM, Vasudevan PC, Tanteles GA.

Am J Med Genet A. 2016 Mar;170(3):754-9. doi: 10.1002/ajmg.a.37511. Epub 2016 Jan 5.

PMID:
26728615
38.

Lichen striatus with onychodystrophy in an infant.

Krishnegowda SY, Reddy SK, Vasudevan P.

Indian Dermatol Online J. 2015 Sep-Oct;6(5):333-5. doi: 10.4103/2229-5178.164489.

39.
40.

A user-friendly web portal for analyzing conformational changes in structures of Mycobacterium tuberculosis.

Hassan S, Thangam M, Vasudevan P, Kumar GR, Unni R, Devi PK, Hanna LE.

J Mol Model. 2015 Oct;21(10):252. doi: 10.1007/s00894-015-2799-6. Epub 2015 Sep 11.

PMID:
26361768
41.

Is 15q11.2 microdeletion associated with periventricular nodular heterotopia?

Radley JA, Vasudevan PC.

Clin Dysmorphol. 2015 Oct;24(4):156-8. doi: 10.1097/MCD.0000000000000095. No abstract available.

PMID:
26241618
42.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T.

Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30.

43.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Parker MJ, Fryer AE, Shears DJ, Lachlan KL, McKee SA, Magee AC, Mohammed S, Vasudevan PC, Park SM, Benoit V, Lederer D, Maystadt I, Study D, FitzPatrick DR.

Am J Med Genet A. 2015 Oct;167A(10):2231-7. doi: 10.1002/ajmg.a.37189. Epub 2015 Jun 15.

44.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Schlögel MJ, Mendola A, Fastré E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M.

Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4.

45.

Recombinant Human Growth Hormone Therapy in Children with Chromosome 15q26 Deletion.

Ho SC, Clayton P, Vasudevan P, Greening J, Wardhaugh B, Shaw N, Kelnar C, Kirk J, Högler W.

Horm Res Paediatr. 2015 Apr 22. [Epub ahead of print]

PMID:
25924833
46.

Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family.

Jain V, Feehally J, Jones G, Robertson L, Nair D, Vasudevan P.

Clin Kidney J. 2014 Jun;7(3):303-5. doi: 10.1093/ckj/sfu028. Epub 2014 Apr 2.

47.

Innovative way of making intubating laryngeal mask airway stabilizer rod.

Rao MH, Muralidhar A, Subbarao A, Vasudevan P.

Indian J Anaesth. 2015 Jan;59(1):59-60. doi: 10.4103/0019-5049.149463. No abstract available.

48.

Mosaic structural variation in children with developmental disorders.

King DA, Jones WD, Crow YJ, Dominiczak AF, Foster NA, Gaunt TR, Harris J, Hellens SW, Homfray T, Innes J, Jones EA, Joss S, Kulkarni A, Mansour S, Morris AD, Parker MJ, Porteous DJ, Shihab HA, Smith BH, Tatton-Brown K, Tolmie JL, Trzaskowski M, Vasudevan PC, Wakeling E, Wright M, Plomin R, Timpson NJ, Hurles ME; Deciphering Developmental Disorders Study.

Hum Mol Genet. 2015 May 15;24(10):2733-45. doi: 10.1093/hmg/ddv033. Epub 2015 Jan 29.

49.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Hussain MS, Battaglia A, Szczepanski S, Kaygusuz E, Toliat MR, Sakakibara S, Altmüller J, Thiele H, Nürnberg G, Moosa S, Yigit G, Beleggia F, Tinschert S, Clayton-Smith J, Vasudevan P, Urquhart JE, Donnai D, Fryer A, Percin F, Brancati F, Dobbie A, Smigiel R, Gillessen-Kaesbach G, Wollnik B, Noegel AA, Newman WG, Nürnberg P.

Am J Hum Genet. 2014 Nov 6;95(5):622-32. doi: 10.1016/j.ajhg.2014.10.008. Epub 2014 Nov 6.

50.

Somatic mosaicism in ACVRL1 with transmission to several offspring affected with severe pulmonary arterial hypertension.

Jones G, Robertson L, Harrison R, Ridout C, Vasudevan P.

Am J Med Genet A. 2014 Aug;164A(8):2121-3. doi: 10.1002/ajmg.a.36568. Epub 2014 Apr 21. No abstract available.

PMID:
24753439

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