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Items: 12

1.

KAT6B Disorders.

Lemire G, Campeau PM, Lee BH.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2012 Dec 13 [updated 2020 Jan 2].

2.

Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.

Lemire GT, Beauregard-Lacroix É, Campeau PM, Parent S, Roy-Beaudry M, Soglio DD, Grignon A, Rypens F, Wavrant S, Laberge AM, Delrue MA.

Am J Med Genet A. 2019 Dec 27. doi: 10.1002/ajmg.a.61468. [Epub ahead of print]

PMID:
31880412
3.

Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation.

Mumm S, Gottesman GS, Wenkert D, Campeau PM, Nenninger A, Huskey M, Bijanki VN, Veis DJ, Barnes AM, Marini JC, Stolina M, Zhang F, McAlister WH, Whyte MP.

Bone. 2020 Jan;130:115047. doi: 10.1016/j.bone.2019.115047. Epub 2019 Aug 28.

PMID:
31472299
4.

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.

Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA.

Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16.

PMID:
31092906
5.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

6.

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures".

Costantini A, Valta H, Baratang NV, Yap P, Bertola DR, Yamamoto GL, Kim CA, Chen J, Wierenga KJ, Fanning EA, Escobar L, McWalter K, McLaughlin H, Willaert R, Begtrup A, Alm JJ, Reinhardt DP, Mäkitie O, Campeau PM.

Bone. 2019 Apr;121:163-171. doi: 10.1016/j.bone.2018.12.020. Epub 2018 Dec 30.

PMID:
30599297
7.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT; Baylor-Hopkins Center for Mendelian Genomics, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):815-823. doi: 10.1016/j.ajhg.2017.09.019.

8.

Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses.

Beauregard-Lacroix E, Tardif J, Camurri MV, Lemyre E, Barchi S, Parent S, Campeau PM.

Spine (Phila Pa 1976). 2017 Jul 15;42(14):E841-E847. doi: 10.1097/BRS.0000000000001983.

PMID:
27879578
9.

Biosynthesis of glycosaminoglycans: associated disorders and biochemical tests.

Sasarman F, Maftei C, Campeau PM, Brunel-Guitton C, Mitchell GA, Allard P.

J Inherit Metab Dis. 2016 Mar;39(2):173-88. doi: 10.1007/s10545-015-9903-z. Epub 2015 Dec 21. Review.

PMID:
26689402
10.

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC.

Am J Med Genet A. 2015 Jun;167(6):1309-14. doi: 10.1002/ajmg.a.36899. Epub 2015 Apr 2.

11.

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Campeau PM, Hennekam RC; DOORS syndrome collaborative group.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. Epub 2014 Aug 28.

PMID:
25169651
12.

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR.

Clin Genet. 2015 Feb;87(2):133-40. doi: 10.1111/cge.12409. Epub 2014 May 30.

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