Results 1 to 19 of 19
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Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome-expanding the clinical spectrumChung, BHY; Bradley, T; Grosse-Wortmann, L; Blaser, S; Dirks, P; Hinek, A; Chitayat, D201419
In the shadow of MEF2C: Genotype-phenotype correlation for 5q14.3q21 deletionsRosenfeld, JA; Stoate, K; Asamoah, A; Lebel, RR; Raskin, S; Russell, L; Chitayat, D; Chung, BHY; Ellison, JW; Schimmenti, LA201318
A specific DNA methylation signature associated with NSD1+/- mutations in Sotos syndrome reveals a significant genome-wide loss of DNA methylation (DNAm) targeting CGs in regulatory regions of key developmental genesChoufani, S; Cytrynbaum, C; Turinsky, AL; Chen, YA; Grafodatskaya, D; Xiang, J; Feigenberg, M; Chung, BHY; Stavropoulos, DJ; Mendoza-Londono, R; Chitayat, D; Gibson, WT; Reardon, M; Brudno, M; Weksberg, R201335
Hand abnormalities in Loeys-Dietz syndrome: Expanding the clinical spectrumChung, BHY; Hinek, A; Bradley, T; Grossse-Wortmann, L; Blaser, S; Chitayat, D201239
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?Chung, BHY; Hinek, A; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D201292
Correspondence: further studies on a kindred reported by Li 2009 as ‘A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred’. From ‘new syndrome’ through EEC to ulnar mammary syndrome (Letter to the Editor)Chung, BHY; Fernandez, B; Li, C; Chitayat, D2012111
Hand abnormalities in Loeys-Dietz syndrome: expanding the clinical spectrumChung, B; Hinek, A; Bradley, T; Grossse-Wortmann, L; Blaser, S; Chitayat, D201251
From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disordersChung, B; Shaffer, LG; Keating, S; Johnson, J; Casey, B; Chitayat, D2011218
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinse activity related to reduced T1MP1: a new syndromeChung, BHY; Hinek, A; Shannon, P; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D2011102
Ulnar-Mammary syndrome: expending the phenotype to include ankyloglossia and cleft lip and palateJessen, J; Chung, BHY; Fernandez, B; Li, C; Chitayat, D2010207
Fetal forehead hemangiopericytoma: prenatal diagnosis and postnatal outcomeChung, HYB; Chu, L; Forrest, C; Silver, R; Toi, A; Blaser, S; Viero, S; Taylor, G; Chitayat, D2010154
In-vitro treatment with pravastatin and dexamethasone normalizes abnormal deposition of elastic fibers in dermal fibroblasts derived from patients with Restrictive Dermopathy - Possible therapeutic implicationsHinek, A; Chung, BHY; Teitelbaum, R; Shannon, P; Chitayat, D2010140
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a new syndrome?Shah, V; Chung, BHY; Hinek, A; Chitayat, D2010133
Enlarged parietal foramina: findings on prenatal ultrasound and magnetic resonance imagingChung, BHY; Uster-Friedberg, T; Pentaz, S; Blaser, S; Murphy, K; Chitayat, D2010231
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophyLehman, AM; Eydoux, P; Doherty, D; Glass, IA; Chitayat, D; Chung, BYH; Langlois, S; Yong, SL; Lowry, RB; Hildebrandt, F; Trnka, P2010109
Brachytelephalangic chondrodysplasia punctua. A rare X-linked skeletal dysplasia presenting as piriform aperture stenosis and caused by mutation in the arylsulfatase E (ARSE) geneMiller, S; Chung, BHY; Chitayat, D2008182
Renal dysplasia - Coarctation of aorta. A new association/syndrome: A report of 6 casesChung, BHY; Chitayat, D200899
Human chromosome 7: DNA sequence and biologyScherer, SW; Cheung, J; MacDonald, JR; Osborne, LR; Nakabayashi, K; Herbrick, JA; Carson, AR; ParkerKatiraee, L; Skaug, J; Khaja, R; Zhang, J; Hudek, AK; Li, M; Haddad, M; Duggan, GE; Fernandez, BA; Kanematsu, E; Gentles, S; Christopoulos, CC; Choufani, S; Kwasnicka, D; Zheng, XH; Lai, Z; Nusskern, D; Zhang, Q; Gu, Z; Lu, F; Zeesman, S; Nowaczyk, MJ; Teshima, I; Chitayat, D; Shuman, C; Weksberg, R; Zackai, EH; Grebe, TA; Cox, SR; Kirkpatrick, SJ; Rahman, N; Friedman, JM; Heng, HHQ; Pelicci, PG; LoCoco, F; Belloni, E; Shaffer, LG; Pober, B; Morton, CC; Gusella, JF; Bruns, GAP; Korf, BR; Quade, BJ; Ligon, AH; Ferguson, H; Higgins, AW; Leach, NT; Herrick, SR; Lemyre, E; Farra, CG; Kim, HG; Summers, AM; Gripp, KW; Roberts, W; Szatmari, P; Winsor, EJT; Grzeschik, KH; Teebi, A; Minassian, BA; Kere, J; Armengol, L; Pujana, MA; Estivill, X; Wilson, MD; Koop, BF; Tosi, S; Moore, GE; Boright, AP; Zlotorynski, E; Kerem, B; Kroisel, PM; Petek, E; Oscier, DG; Mould, SJ; Döhner, H; Döhner, K; Rommens, JM; Vincent, JB; Venter, JC; Li, PW; Mural, RJ; Adams, MD; Tsui, LC2003692
A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndromeOsborne, LR; Li, M; Pober, B; Chitayat, D; Bodurtha, J; Mandel, A; Costa, T; Grebe, T; Cox, S; Tsui, LC; Scherer, SW20011,777
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