Search Results - "Kim, A. C."

Association of a Homozygous Nonsense Caveolin-1 Mutation with Berardinelli-Seip Congenital Lipodystrophy by Kim, C. A., Delépine, Marc, Boutet, Emilie, El Mourabit, Haquima, Le Lay, Soazig, Meier, Muriel, Nemani, Mona, Bridel, Etienne, Leite, Claudia C., Bertola, Debora R., Semple, Robert K., O’Rahilly, Stephen, Dugail, Isabelle, Capeau, Jacqueline, Lathrop, Mark, Magré, Jocelyne

“…Context: Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare recessive disease characterized by near absence of adipose tissue, resulting in severe…”
Get full text

Suboptimal Adherence in Clinical Practice to Guidelines Recommendation to Screen for Lynch Syndrome by Jain, A., Shafer, L., Rothenmund, H., Kim, C. A., Samadder, J., Gupta, S., Singh, H.

“…Background Identification of Lynch syndrome (LS) followed by annual/biannual surveillance colonoscopy markedly reduces the risk of developing new colorectal…”
Get full text

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population by Mathijssen, Inge B, Holtkamp, Kim C A, Ottenheim, Cecile P E, van Eeten-Nijman, Janneke M C, Lakeman, Phillis, Meijers-Heijboer, Hanne, van Maarle, Merel C, Henneman, Lidewij

“…Technological developments have enabled carrier screening for multiple disorders. This study evaluated experiences with a preconception carrier screening offer…”
Get full text

Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape by Holtkamp, Kim C A, Vos, Evelien M, Rigter, Tessel, Lakeman, Phillis, Henneman, Lidewij, Cornel, Martina C

“…In most countries, genetic carrier screening is neither offered, nor embedded in mainstream healthcare. Technological developments have triggered a two-fold…”
Get full text

Genomic imbalances associated with mullerian aplasia by Cheroki, C, Krepischi-Santos, A C V, Szuhai, K, Brenner, V, Kim, C A E, Otto, P A, Rosenberg, C

“…Aplasia of the müllerian ducts leads to absence of the uterine corpus, uterine cervix, and upper (superior) vagina. Patients with müllerian aplasia (MA) often…”
Get more information

Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients by Varela, MC, Kok, F, Setian, N, Kim, CA, Koiffmann, CP

“…Prader–Willi syndrome (PWS) can result from a 15q11–q13 paternal deletion, maternal uniparental disomy (UPD), or imprinting mutations. We describe here the…”
Get full text

Surgical wound infection, tuboovarian abscess, and sepsis caused by Edwardsiella tarda: case reports and literature review by Golub, V, Kim, A. C, Krol, V

“…Edwardsiella tarda is a freshwater pathogen that may cause mild to invasive infections with high mortality in humans. We describe two patients with serious E…”
Get full text

Polymerization of the SAM domain of TEL in leukemogenesis and transcriptional repression by Kim, Chongwoo A., Phillips, Martin L., Kim, Woojae, Gingery, Mari, Tran, Hoang H., Robinson, Michael A., Faham, Salem, Bowie, James U.

“…TEL is a transcriptional repressor that is a frequent target of chromosomal translocations in a large number of hematalogical malignancies. These…”
Get full text

Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause by Petit, F., Escande, F., Jourdain, A.S., Porchet, N., Amiel, J., Doray, B., Delrue, M.A., Flori, E., Kim, C.A., Marlin, S., Robertson, S.P., Manouvrier-Hanu, S., Holder-Espinasse, M.

“…Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently,…”
Get full text

A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability by Ceroni, J. R. M., Dutra, R. L., Honjo, R. S., Llerena, J. C., Acosta, A. X., Medeiros, P. F. V., Galera, M. F., Zanardo, É. A., Piazzon, F. B., Dias, A. T., Novo-Filho, G. M., Montenegro, M. M., Madia, F. A. R., Bertola, D. R., de Melo, J. B., Kulikowski, L. D., Kim, C. A.

“…Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number…”
Get full text

Cardiac markers of EIH athletes in ultramarathon by Kim, Y-J, Kim, C-H, Shin, K-A, Kim, A-C, Lee, Y-H, Goh, C-W, Oh, J-K, Nam, H-S, Park, Y

“…This study aimed to investigate effects of a 100-km ultramarathon on cardiac markers of exercise-induced-hypertensive marathoners. 10 marathoners with…”
Get more information

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? by Bertola, DR, Pereira, AC, Brasil, AS, Suzuki, L, Leite, C, Falzoni, R, Tannuri, U, Poplawski, AB, Janowski, KM, Kim, CA, Messiaen, LM

Get full text

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum by Bertola, D.R., Hsia, G., Alvizi, L., Gardham, A., Wakeling, E.L., Yamamoto, G.L., Honjo, R.S., Oliveira, L.A.N., Di Francesco, R.C., Perez, B.A., Kim, C.A., Passos‐Bueno, M.R.

“…Richieri‐Costa‐Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal…”
Get full text

Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene by Cury, G.K., Matte, U., Artigalás, O., Alegra, T., Velho, R.V., Sperb, F., Burin, M.G., Ribeiro, E.M., Lourenço, C.M., Kim, C.A., Valadares, E.R., Galera, M.F., Acosta, A.X., Schwartz, I.V.D.

“…Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the…”
Get full text

Congenital abnormalities in Brazilian children associated with misoprostol misuse in first trimester of pregnancy by Gonzalez, Claudette Hajaj, Marques-Dias, Maria Joaquina, Kim, Chong Ae, Sugayama, Sofia MM, Da Paz, José Albino, Huson, Susan M, Holmes, Lewis B

“…Misoprostol is commonly used to induce abortion in Brazil, and in other countries in South and Central America where abortions are illegal. However,…”
Get full text

Synthesis and electrorheological characteristics of microencapsulated polyaniline particles with melamine–formaldehyde resins by Lee, Y.H, Kim, C.A, Jang, W.H, Choi, H.J, Jhon, M.S

“…Polyaniline particles with low pH cannot be directly used in the electrorheological (ER) systems, since their emerald base form has a conductivity that is too…”
Get full text

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation by Jehee, F S, Krepischi-Santos, A C V, Rocha, K M, Cavalcanti, D P, Kim, C A, Bertola, D R, Alonso, L G, D'Angelo, C S, Mazzeu, J F, Froyen, G, Lugtenberg, D, Vianna-Morgante, A M, Rosenberg, C, Passos-Bueno, M R

“…We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with…”
Get more information

Penile anthropometry in systemic lupus erythematosus patients by Vecchi, AP, Borba, EF, Bonfá, E, Cocuzza, M, Pieri, P, Kim, CA, Silva, CA

“…The aim of this study was to evaluate penile anthropometry in systemic lupus erythematosus (SLE) patients compared with healthy controls and the possible…”
Get full text

A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome by Teixeira, M. C. T. V., Emerich, D. R., Orsati, F. T., Rimério, R. C., Gatto, K. R., Chappaz, I. O., Kim, C. A.

“…Background  Psychological tests can be useful to record adaptive and maladaptive behaviours of children with intellectual disability. The objective of this…”
Get full text

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening by van Schendel, Rachèl V, Kleinveld, Johanna H, Dondorp, Wybo J, Pajkrt, Eva, Timmermans, Danielle R M, Holtkamp, Kim C A, Karsten, Margreet, Vlietstra, Anne L, Lachmeijer, Augusta M A, Henneman, Lidewij

“…Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and…”
Get full text