Search Results - "KUKOLICH, M"

De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature by Velagaleti, GVN, Jalal, SM, Kukolich, MK, Lockhart, LH, Tonk, VS

“…The present authors report the case of a 12‐year‐old‐boy with a de novo, non‐mosaic supernumerary ring chromosome 7 associated with significant developmental…”
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A second autosomal split hand/split foot locus maps to chromosome 10q24-q25 by Nunes, M E, Schutt, G, Kapur, R P, Luthardt, F, Kukolich, M, Byers, P, Evans, J P

“…Ectrodactyly (split hand/split foot malformation, SHSF) is a human limb malformation characterized by absent central digital rays, deep median cleft, and…”
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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders by Gillentine, Madelyn A, Wang, Tianyun, Hoekzema, Kendra, Rosenfeld, Jill, Liu, Pengfei, Guo, Hui, Kim, Chang N, De Vries, Bert B A, Vissers, Lisenka E L M, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Srivastava, Siddharth, Atwal, Paldeep, Bacino, Carlos A, Bhat, Gifty, Cobian, Katherine, Bird, Lynne M, Friedman, Jennifer, Wright, Meredith S, Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Christensen, Celenie K, White, Kerry M, Elpeleg, Orly, Berger, Itai, Espineli, Edward J, Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Vento, Jodie, Vats, Divya, Benman, L Manace, Mckee, Shane, Mirzaa, Ghayda M, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E H, van Gassen, Koen L I, Simpson, Kara, Stratton, Robert, Syed, Sabeen, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K, Nowakowski, Tomasz, Bernier, Raphael A, Eichler, Evan E

“…With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene…”
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Ring chromosome 8 syndrome: Further characterization by Tonk, Vijay S., Kukolich, Mary K., Morgan, David, Khan, Ashraf, Jalal, Syed M.

“…We describe two de novo cases of extra r(8) confirmed by fluorescent in situ hybridization (FISH). Based on these two and eight additional cases of extra r(8)…”
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Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation by PALMER, S. E, SCHERER, S. W, KUKOLICH, M, WIJSMAN, E. M, LAP-CHEE TSUI, STEPHENS, K, EVANS, J. P

“…Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb…”
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Tetrasomy 9p: an emerging syndrome by Jalal, S M, Kukolich, M K, Garcia, M, Benjamin, T R, Day, D W

“…An infant with non-mosaic 9p tetrasomy is described. The tetrasomy apparently results from a translocation involving the 9qh region. All the cells analyzed…”
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Retinal pigment mosaicism in Pallister-Killian syndrome (mosaic tetrasomy 12p) by Graham, W, Brown, S M, Shah, F, Tonk, V S, Kukolich, M K

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Prenatal diagnosis of a de novo trisomy 6q22.2-->6qter and monosomy 1pter-->1p36.3. Case report with a 2-year follow-up and a brief review of other prenatal cases of partial trisomy 6q by Kulharya, A S, Carlin, M E, Stettler, R W, Huslig, M, Kukolich, M K, Garcia-Heras, J, Stettler, W A

“…We report a de novo trisom 6q22.2-->6qter and monosomy 1pter-->1p36.3 identified in amniocytes by GTG banding and FISH. While ultrasonography demonstrated…”
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Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement by Tharapel, A T, Redheendran, R, Mankinen, C B, Kukolich, M K

“…The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an…”
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Mutation Analysis of UBE3A in Angelman Syndrome Patients by Malzac, Perrine, Webber, Hayley, Moncla, Anne, Graham, John M., Kukolich, Mary, Williams, Charles, Pagon, Roberta A., Ramsdell, Linda A., Kishino, Tatsuya, Wagstaff, Joseph

“…Angelman syndrome (AS) is caused by chromosome 15q11-q13 deletions of maternal origin, by paternal uniparental disomy (UPD) 15, by imprinting defects, and by…”
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De novo partial duplications 1p: Report of two new cases and review by Garcia-Heras, Jaime, Corley, Norlela, Garcia, Mary F., Kukolich, Mary K., Smith, Kim G., Day, Donald W.

“…We describe two de novo intrachromosomal duplications of 1p. One case is a dir ins dup(1)(q21p21p31) in a newborn girl with low birth weight, growth…”
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Sudden infant death syndrome: normal QT interval on ECGs of relatives by Kukolich, M K, Telsey, A, Ott, J, Motulsky, A G

“…Genetically determined prolongation of the QT interval on ECGs has been proposed as one basic pathogenetic mechanism for the sudden infant death syndrome…”
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Hypomelanosis of Ito with triphalangeal thumbs by Kukolich, M K, Althaus, B W, Freeman, M V, Lewandowski, R C

“…A black female with abnormal skin pigmentation, similar to that seen in hypomelanosis of Ito, and triphalangeal thumbs is presented. This association has not…”
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Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly by Kulharya, A S, Maberry, M, Kukolich, M K, Day, D W, Schneider, N R, Wilson, G N, Tonk, V

“…We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal…”
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Euchromatic 9q + heteromorphism in a family by Jalal, S M, Kukolich, M K, Garcia, M, Day, D W

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Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23 by Kulharya, A S, Roop, H, Kukolich, M K, Nachtman, R G, Belmont, J W, Garcia-Heras, J

“…We report on a girl with a de novo monosomy Xpter-->Xp22.3 and trisomy 3pter-->3p23, normal development and stature, mildly affected phenotype, and learning…”
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Trisomy 22: no longer an enigma by Kukolich, M K, Kulharya, A, Jalal, S M, Drummond-Borg, M

“…We describe a live-born male with 47,XY,+22. He had multiple congenital anomalies, severe growth retardation and psychomotor delay. Physical manifestations…”
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Disease associated balanced chromosome rearrangements (DBCR): report of two new cases by Tonk, V.S., Wyandt, H.E., Huang, X., Patel, N., Morgan, D.L., Kukolich, M., Lockhart, L.H., Velagaleti, Gopalrao V.N.

“…Disease associated balanced chromosome rearrangements (DBCR) causing truncation, deletion, inactivation or over-expression of specific genes are instrumental…”
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Euchromatic 16p+ heteromorphism: first report in North America by Jalal, S M, Schneider, N R, Kukolich, M K, Wilson, G N

“…A heteromorphism of the short arm of 16 (16p+) was discovered in 2 unrelated infants. By G banding, the euchromatic variant appears as a light and a medium…”
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Abnormalities resulting from a familial pericentric inversion of chromosome 18 by Kukolich, M K, Althaus, B W, Sears, J W, Mankinen, C B, Lewandowski, R C

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