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Items: 1 to 20 of 59

1.

Cherubism.

Kannu P, Baskin B, Bowdin S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 Feb 26 [updated 2018 Nov 21].

2.

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2018 Oct 1. doi: 10.1038/s41436-018-0326-8. [Epub ahead of print]

PMID:
30275510
3.

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM.

Genet Med. 2018 Sep 7. doi: 10.1038/s41436-018-0269-0. [Epub ahead of print] Erratum in: Genet Med. 2018 Oct 1;:.

PMID:
30190611
4.

Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1.

Marwaha A, Malach J, Shugar A, Hedges S, Weinstein M, Parkin PC, Pope E, Lara-Corrales I, Kannu P.

Br J Dermatol. 2018 Nov;179(5):1216-1217. doi: 10.1111/bjd.16929. Epub 2018 Sep 21. No abstract available.

PMID:
29957862
5.

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

Moran J, G Sanderson K, Maynes J, Vig A, Batmanabane V, Kannu P, Tavares E, Vincent A, Héon E.

Clin Genet. 2018 Oct;94(3-4):368-372. doi: 10.1111/cge.13408. Epub 2018 Jul 17.

PMID:
29923190
6.

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies.

Cizmeci MN, Lequin M, Lichtenbelt KD, Chitayat D, Kannu P, James AG, Groenendaal F, Chakkarapani E, Blaser S, de Vries LS.

AJNR Am J Neuroradiol. 2018 Jun;39(6):1146-1152. doi: 10.3174/ajnr.A5611. Epub 2018 Apr 5.

PMID:
29622558
7.

Osteofibrous Dysplasia of the Tibia in Children: Outcome Without Resection.

Westacott D, Kannu P, Stimec J, Hopyan S, Howard A.

J Pediatr Orthop. 2017 Dec 8. doi: 10.1097/BPO.0000000000001116. [Epub ahead of print]

PMID:
29227372
8.

Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.

Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S.

Am J Med Genet A. 2018 Feb;176(2):399-403. doi: 10.1002/ajmg.a.38530. Epub 2017 Nov 30.

PMID:
29193829
9.

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice.

Costain G, Moore AM, Munroe L, Williams A, Zlotnik Shaul R, Rockman-Greenberg C, Offringa M, Kannu P.

Mol Genet Metab Rep. 2017 Nov 7;14:22-26. doi: 10.1016/j.ymgmr.2017.10.006. eCollection 2018 Mar.

10.

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

Costain G, Kannu P, Bowdin S.

Eur J Med Genet. 2018 Mar;61(3):125-129. doi: 10.1016/j.ejmg.2017.11.002. Epub 2017 Nov 10.

PMID:
29133209
11.

Severe phenotype of X-linked dominant chondrodysplasia punctata.

Damseh N, Chong K, Marshall C, Kratz L, Teitelbaum R, Shannon P, Kannu P.

Clin Case Rep. 2017 Jul 20;5(9):1435-1437. doi: 10.1002/ccr3.1008. eCollection 2017 Sep.

12.

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F.

Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14.

13.

PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.

Kannu P, Mahjoub A, Babul-Hirji R, Carter MT, Harrington J.

Horm Res Paediatr. 2017;88(3-4):298-304. doi: 10.1159/000477242. Epub 2017 Jun 12.

PMID:
28605746
14.

Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience.

Lara-Corrales I, Moazzami M, García-Romero MT, Pope E, Parkin P, Shugar A, Kannu P.

J Cutan Med Surg. 2017 Sep/Oct;21(5):379-382. doi: 10.1177/1203475417708163. Epub 2017 Apr 27.

PMID:
28448720
15.

Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi-Goutières Syndrome.

Wang BX, Grover SA, Kannu P, Yoon G, Laxer RM, Yeh EA, Fish EN.

J Interferon Cytokine Res. 2017 Apr;37(4):147-152. doi: 10.1089/jir.2016.0117. Epub 2017 Feb 17.

PMID:
28387595
16.

Homozygous mutation in PRUNE1 in an Oji-Cree male with a complex neurological phenotype.

Costain G, Shugar A, Krishnan P, Mahmutoglu S, Laughlin S, Kannu P.

Am J Med Genet A. 2017 Mar;173(3):740-743. doi: 10.1002/ajmg.a.38066.

PMID:
28211990
17.

Parents' Understanding of Genetics and Heritability.

Harding B, Egan R, Kannu P, MacKenzie JJ.

J Genet Couns. 2017 Jun;26(3):541-547. doi: 10.1007/s10897-016-0021-3. Epub 2016 Oct 17.

PMID:
27747461
18.

Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis.

Jobling RK, Lara-Corrales I, Hsiao MC, Shugar A, Hedges S, Messiaen L, Kannu P.

Br J Dermatol. 2017 Apr;176(4):1077-1078. doi: 10.1111/bjd.14873. Epub 2017 Feb 5. No abstract available.

PMID:
27423141
19.

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.

Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, Nizard S, Shago M, Joseph-George AM, Noor A, Carter MT, Yoon G, Kannu P, Tihy F, Thorland EC, Marshall CR, Buchanan JA, Speevak M, Stavropoulos DJ, Scherer SW.

Sci Rep. 2016 Jul 1;6:28663. doi: 10.1038/srep28663.

20.

β-Catenin modulation in neurofibromatosis type 1 bone repair: therapeutic implications.

Ghadakzadeh S, Kannu P, Whetstone H, Howard A, Alman BA.

FASEB J. 2016 Sep;30(9):3227-37. doi: 10.1096/fj.201500190RR. Epub 2016 Jun 15.

PMID:
27306335

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