Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, Andrea L., Lodish, Maya B., Stratakis, Constantine A., Maric, Irina, Rosenzweig, Sergio D., Baker, Eva H., Ferreira, Carlos R., Danylchuk, Noelle R., Kahler, Stephen, Garnica, Adolfo D., Bradley Schaefer, G., Boerkoel, Cornelius F., Gahl, William A., Wolfe, Lynne A.
Published in Molecular genetics and metabolism (01.06.2015)
Published in Molecular genetics and metabolism (01.06.2015)
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Patel, Ankita, Brunetti-Pierri, Nicola, Berg, Jonathan S, Scaglia, Fernando, Belmont, John, Bacino, Carlos A, Sahoo, Trilochan, Lalani, Seema R, Graham, Brett, Lee, Brendan, Shinawi, Marwan, Shen, Joseph, Kang, Sung-Hae L, Pursley, Amber, Lotze, Timothy, Kennedy, Gail, Lansky-Shafer, Susan, Weaver, Christine, Roeder, Elizabeth R, Grebe, Theresa A, Arnold, Georgianne L, Hutchison, Terry, Reimschisel, Tyler, Amato, Stephen, Geragthy, Michael T, Innis, Jeffrey W, Obersztyn, Ewa, Nowakowska, Beata, Rosengren, Sally S, Bader, Patricia I, Grange, Dorothy K, Naqvi, Sayed, Garnica, Adolfo D, Bernes, Saunder M, Fong, Chin-To, Summers, Anne, Walters, W David, Lupski, James R, Stankiewicz, Pawel, Cheung, Sau Wai
Published in Nature genetics (01.12.2008)
Published in Nature genetics (01.12.2008)
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C. E., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld‐Adams, James, Wells, Katerina O., Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p
Zarate, Yuri A., Shur, Natasha, Robin, Andrew, Garnica, Adolfo D., Quintos, Jose Bernardo, Schaefer, G. Bradley
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2014)
Published in Journal of Pediatric Endocrinology & Metabolism (01.09.2014)
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Recurrent reciprocal lq21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
BRUNETTI-PIERRI, Nicola, BERG, Jonathan S, SHEN, Joseph, KANG, Sung-Hae L, PURSLEY, Amber, LOTZE, Timothy, KENNEDY, Gail, LANSKY-SHAFER, Susan, WEAVER, Christine, ROEDER, Elizabeth R, GREBE, Theresa A, ARNOLD, Georgianne L, SCAGLIA, Fernando, HUTCHISON, Terry, REIMSCHISEL, Tyler, AMATO, Stephen, GERAGTHY, Michael T, INNIS, Jeffrey W, OBERSZTYN, Ewa, NOWAKOWSKA, Beata, ROSENGREN, Sally S, BADER, Patricia I, GRANGE, Dorothy K, BELMONT, John, NAQVI, Sayed, GARNICA, Adolfo D, BERNES, Saunder M, FONG, Chin-To, SUMMERS, Anne, WALTERS, W. David, LUPSKI, James R, STANKIEWICZ, Pawel, SAU WAI CHEUNG, PATEL, Ankita, BACINO, Carlos A, SAHOO, Trilochan, LALANI, Seema R, GRAHAM, Brett, LEE, Brendan, SHINAWI, Marwan
Published in Nature genetics (2008)
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Published in Nature genetics (2008)
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A Newborn With Complex Skeletal Abnormalities, Joint Contractures, and Bilateral Corneal Clouding With Sclerocornea
Sellars, Elizabeth A., MD, Bosanko, Katherine A., MS, Lepard, Tiffany, MS, Garnica, Adolfo, MD, Schaefer, Gerald Bradley, MD
Published in Seminars in pediatric neurology (01.06.2014)
Published in Seminars in pediatric neurology (01.06.2014)
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Placenta and growth factors in fetal growth and nutrition
Garnica, Adolfo D., Chan, Wai-Yee
Published in Nutrition (Burbank, Los Angeles County, Calif.) (1997)
Published in Nutrition (Burbank, Los Angeles County, Calif.) (1997)
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Trace elements in development and disease
Garnica, Adolfo D., Chan, Wai-Yee, Rennert, Owen M.
Published in Current problems in pediatrics (English ed.) (1986)
Published in Current problems in pediatrics (English ed.) (1986)
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Polyamines in the developing mouse brain
Jasper, T W, Luttge, W G, Benton, T B, Garnica, A D
Published in Developmental neuroscience (01.01.1982)
Published in Developmental neuroscience (01.01.1982)
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