Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.

Autor: Estrella, Elicia, Rockowitz, Shira, Thorne, Marielle, Smith, Pressley, Petit, Jeanette, Zehnder, Veronica, Yu, Richard N., Bauer, Stuart, Berde, Charles, Agrawal, Pankaj B., Beggs, Alan H., Gharavi, Ali G., Kunkel, Louis, Brownstein, Catherine A.

Publikováno v: Advanced Genetics; Mar2023, Vol. 4 Issue 1, p1-9, 9p

LGMD2I in a North American population

Autor: White Alexander J, Thorne Marielle, Estrella Elicia, Feener Chris A, Kang Peter B, Darras Basil T, Amato Anthony A, Kunkel Louis M

Publikováno v: BMC Musculoskeletal Disorders, Vol 8, Iss 1, p 115 (2007)

Abstract Background There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I). Methods We screened the F

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Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.

Autor: Estrella E; Department of Neurology Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Rockowitz S; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; Research Computing Information Technology Boston Children's Hospital Boston MA 02115 USA., Thorne M; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Smith P; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Petit J; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Zehnder V; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Yu RN; Department of Urology Boston Children's Hospital Boston MA 02115 USA., Bauer S; Department of Urology Boston Children's Hospital Boston MA 02115 USA., Berde C; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; Department of Anesthesiology, Critical Care and Pain Medicine Boston Children's Hospital Boston MA 02115 USA.; Department of Anaesthesia Harvard Medical School Boston MA 02115 USA., Agrawal PB; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; Division of Newborn Medicine Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Beggs AH; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Gharavi AG; Institute for Genomic Medicine Vagelos College of Physicians & Surgeons Columbia University New York NY 10032 USA.; Division of Nephrology Department of Medicine Vagelos College of Physicians & Surgeons Columbia University New York NY 10032 USA.; Center for Precision Medicine and Genomics Department of Medicine Vagelos College of Physicians & Surgeons Columbia University New York NY 10032 USA., Kunkel L; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA., Brownstein CA; Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.; The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Publikováno v: Advanced genetics (Hoboken, N.J.) [Adv Genet (Hoboken)] 2022 Nov 27; Vol. 4 (1), pp. 2200013. Date of Electronic Publication: 2022 Nov 27 (Print Publication: 2023).