Search Results - "Canún, S"

Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome by Plaster, Nikki M., Tawil, Rabi, Tristani-Firouzi, Martin, Canún, Sonia, Bendahhou, Saı̈d, Tsunoda, Akiko, Donaldson, Matthew R., Iannaccone, Susan T., Brunt, Ewout, Barohn, Richard, Clark, John, Deymeer, Feza, George, Alfred L., Fish, Frank A., Hahn, Angelika, Nitu, Alexandru, Ozdemir, Coskun, Serdaroglu, Piraye, Subramony, S.H., Wolfe, Gil, Fu, Ying-Hui, Ptáček, Louis J.

“…Andersen's syndrome is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. We have mapped an Andersen's locus to chromosome…”
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PCR-PRINS-FISH analysis of structurally abnormal sex chromosomes in eight patients with Turner phenotype by Cervantes, A, Guevara-Yáñez, R, López, M, Monroy, N, Aguinaga, M, Valdez, H, Sierra, C, Canún, S, Guízar, J, Navarrete, C, Zafra, G, Salamanca, F, Kofman-Alfaro, S

“…According to cytogenetic analysis, about 50% of Turner individuals are 45,X. The remaining cases have a structurally abnormal X chromosome or are mosaics with…”
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Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly by VARGAS, F. R, ROESSLER, E, CORREIA, P, FELIX, T, GEREIGE, R, CUNNINGHAM, M. L, CANUN, S, ANTONARAKIS, S. E, STRACHAN, T, TSUI, L.-C, SCHERER, S. W, MUENKE, M, GAUDENZ, K, BELLONI, E, WHITEHEAD, A. S, KIRKE, P. N, MILLS, J. L, HOOPER, G, STEVENSON, R. E, CORDEIRO, I

“…The human Sonic Hedgehog gene (SHH) is one of the vertebrate homologs related to the Drosophila segment polarity gene hedgehog. The entire coding and promoter…”
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A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting by Pozo, G., Canún, S., Kofman-Alfaro, S., Zenteno, J.C.

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Absent tibiae, triphalangeal thumbs and polydactyly: description of a family and prenatal diagnosis by Canún, S, Lomelí, R M, Martínez, R, Carnevale, A

“…A family with absent tibiae, triphalangeal thumbs and polydactyly is described. Bilateral absence of tibiae is the most severe manifestation of this syndrome…”
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Combined trisomy 9 and Ullrich-Turner syndrome in a girl with a 46,X,der(9)t(X;9)(q12;q32) karyotype by Canún, Sonia, Mutchinick, Osvaldo, Shaffer, Lisa G., Fernández, Camilo

“…Total trisomy 9 is a rare disorder with most patients dying before age 4 months. Herein, we report a 9‐year‐old girl with mental retardation, short stature, a…”
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Molecular analysis of mosaicism for two different de novo acrocentric rearrangements demonstrates diversity in Robertsonian translocation formation by Berend, Sue Ann, Canún, Sonia, McCaskill, Christopher, Page, Scott L., Shaffer, Lisa G.

“…Robertsonian translocations (ROBs) involving chromosome 21 occur in about 5% of individuals with Down syndrome. ROBs are the most common chromosomal…”
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Variability between and within laboratories in the analysis of structural chromosomal abnormalities by Zavala, C, Arroyo, P, Lisker, R, Carnevale, A, Salamanca, F, Navarrete, J I, Jiménez, F M, Blanco, B, Vázquez, V, Sánchez, J, Canún, S

“…The frequency of structural chromosomal aberrations in two samples (AM and PM of the same day) from each of nine normal subjects, cultured in two different…”
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Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients by VALDEZ-DE LA TORRE, M. H, QUINTANA-GARCIA, M, CANUN, S

“…The combination of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate, and oligodontia was recently named…”
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Evaluation of the therapeutic effect of dextran 70 in patients with mucopolysaccharidosis by Hernández, A, Mora, G, Herrera, R, Peña, M T, Canún, S, Cortés, R, Guízar-Vázquez, J, Rostenberg, I

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Andersen syndrome autosomal dominant in three generations by Canún, Sonia, Pérez, Nohemí, Beirana, Luisa G.

“…Andersen syndrome is a rare entity and comprises potassium sensitive periodic paralysis, ventricular arrhythmia, and an unusual facial appearance; syncope and…”
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Epilepsy and pregnancy. Risks and benefits of anticonvulsant treatment by Torres, L C, Félix, R, Canún, S, Mazón, J J

“…Epilepsy is the most frequent neurological disorder during pregnancy. Potential adverse actions of anticonvulsant drugs of fetal development are one of the…”
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Idiopathic multicentric osteolysis with facial anomalies and nephropathy by Carnevale, A, Canún, S, Mendoza, L, del Castillo, V

“…Idiopathic osteolysis denotes a group of rare bone disorders differentiated on the basis of clinical, radiological, and genetic criteria. Idiopathic…”
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A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting by Pozo, G, Canún, S, Kofman-Alfaro, S, Zenteno, J C

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Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome) by Ysunza, Antonio, Pamplona, M.C., Ramı́rez, Elena, Canún, Sonia, Sierra, M.C., Silva-Rojas, Andres

“…Introduction: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, conotruncal anomaly face syndrome, 22q11.2 deletion syndrome among other…”
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Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: A new distinct entity by Canún, Sonia, Guevara‐Sanginés, E.G., Elvira‐Morales, A., Sierra‐Romero, Ma. del C., Rodríguez‐Asbun, H.

“…Congenital generalized hypertrichosis terminalis has been described in association with other features as gingival hyperplasia, osteochondrodysplasia, and a…”
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Sensitivity and specificity of endoscopy for the detection of velocardiofacial syndrome by Ysunza, Antonio, Pamplona, Maricarmen, Silva-Rojas, Andrés, Mazón, Juan José, Ramírez, Elena, Canún, Sonia, Sierra, María del Carmen, Cervantes, Alicia

“…Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, and 22q11.2 deletion syndrome among other labels) is now recognized as the most common…”
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Costello syndrome associated to a neuroblastoma. Presentation of a case by Flores-Nava, G, Canún-Serrano, S, Moysen-Ramírez, S G, Parraguirre-Martínez, S, Escobedo-Chávez, E

“…We present the case of a newborn with Costello syndrome who died due to heart arrhythmia. In the autopsy, a neuroblastoma was found. The male patient was born…”
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Trico-rhino-phalangeal syndrome. Description of two cases in two Mexican families (author's transl) by Navarrete, J I, Orzechowski, A, Jiménez, R, Canún, S, Carnevale, A, Lisker, R

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Congenital Generalized Terminal Hypertrichosis with Gingival Hyperplasia by Guevara‐Sanginés, Esther, Villalobos, Alejandra, Vega‐Memije, Ma. Elisa, Mosqueda‐Taylor, Adalberto, Canún‐Serrano, Sonia, Lacy‐Niebla, Rosa Ma

“…Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a…”
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