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A prevalent caveolin-1 gene variant is associated with the metabolic syndrome in Caucasians and Hispanics

Baudrand Biggs, René; Goodarzi, Mark O.; Vaidya, Anand; Underwood, Patricia C.; Williams, Jonathan S.; Jeunemaitre, Xavier; Hopkins, Paul N.; Brown, Nancy; Raby, Benjamin A.; Lasky-Su, Jessica; Adler, Gail K.; Cui, Jinrui; Guo, Xiuqing; Taylor, Kent D.; Chen, Yii-Der I.; Xiang, Anny; Raffel, Leslie J.; Buchanan, Thomas A.; Rotter, Jerome I.; Williams, Gordon H.; Pojoga, Luminita H. (2015)

Growth in Chilean infants with chromosome 22q11 microdeletion syndrome

Guzman, Maria; Delgado, Iris; Lay-Son, Guillermo; Williams, Edward; Puga, Alonso; Repetto, Gabriela (John Wiley & Sons, 2012)

Chromosome 22q11 microdeletion syndrome has a wide range of clinical manifestations including congenital heart malformations, palatal defects, endocrine abnormalities, immunologic deficits, learning difficulties, and an ...

Vaginal erbium laser as second-generation thermotherapy for the genitourinary syndrome of menopause: a pilot study in breast cancer survivors

Gambacciani, Marco; Levancini, Marco (Lippincott Williams & Wilkins, 2017)

OBJECTIVE: The aim of this study was to evaluate the efficacy and acceptability of a second generation of vaginal laser treatment, the vaginal erbium laser, as a nonablative photothermal therapy for the management of ...

The genetic basis of DOORS syndrome: an exome-sequencing study

Campeau, Philippe; Kasperaviciute, Dalia; Lu, James; Burrage, Lindsay; Kim, Choel; Hori, Mutsuki; Powell, Berkley; Stewart, Fiona; Têmis, Maria Félix,; van den Ende, Jenneke; Wisniewska, Marzena; Kayserili, Hülya; Rump, Patrick; Nampoothiri, Sheela; Aftimos, Salim; Mey, Antje; Nair, Lal; Begleiter, Michael; De Bie, Isabelle; Meenakshi, Girish; Murray, Mitzi; Repetto, Gabriela; Golabi, Mahin; Blair, Edward; Male, Alison; Giuliano, Fabienne; Kariminejad, Ariana; Newmanab, William; Bhaskarab, Sanjeev; Dickersonab, Jonathan; Kerrab, Bronwyn; Bankaab, Siddharth; Giltay, Jacques; Wieczorek, Dagmar; Tostevin, Anna; Wiszniewska, Joanna; Cheung, Sau Wai; Hennekam, Raoul; Gibbs, Richard; Lee, Brendan; Sisodiya, Sanjay (Elsevier, 2017)

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3

Guo, Tingwei; Repetto, Gabriela; McDonald, Donna; Chung, Jonathan; Nomaru, Hiroko; Campbell, Christopher; Blonska, Anna; Bassett, Anne; Chow, Eva; Mlynarski, Elisabeth; Swillen, Ann; Vermeesch, Joris; Devriendt, Koen; Gothelf, Doron; Carmel, Miri; Michaelovsky, Elena; Schneider, Maude; Eliez, Stephan; Antonarakis, Stylianos; Coleman, Karlene; Tomita, Aoy; Mitchell, Michael; Digilio, Cristina; Dallapiccola, Bruno; Marino, Bruno; Philip, Nicole; Busa, Tiffany; Kushan, Leila; Bearden, Carrie; Piotrowicz, Małgorzata; Hawuła, Wanda; Roberts, Amy; Tassone, Flora; Simon, Tony; van Duin, Esther; van Amelsvoort, Thérèse; Kates, Wendy; Zackai, Elaine; Johnston, Richard; Cutler, David; Agopian, A; Goldmuntz, Elizabeth; Mitchell, Laura; Wang, Tao; Emanuel, Beverly; Morrow, Bernice; the International 22q11.2 Consortium/Brain and Behavior Consortium (Lippincott Williams & Wilkins, 2017)

BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild ...

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Ballestrini, Simona; Mathieu, Milh; Castiglioni, Claudia; Lüthy, Kevin; Finelli, Mattea; Verstreken, Patrik; Cardon, Aaron; Gnidovec, Barbara; Holder, Lloyd; Lesca, Gaetan; Mancardi, María; Poulat, Anne; Repetto, Gabriela; et al. (Lippincott Williams & Wilkins, 2016)

OBJECTIVE: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, ...