Search Results - "Rittler, M"

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    47,XYY karyotype and normal SRY in a patient with a female phenotype by Benasayag, S, Rittler, M, Nieto, F, Torres de Aguirre, N, Reyes, M, Copelli, S

    “…A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes…”
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    Journal Article
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    Chondrodysplasia punctata, tibia-metacarpal (MT) type by Rittler, M, Menger, H, Spranger, J

    Published in American journal of medical genetics (01-10-1990)
    “…We describe 7 patients with a new form of chondrodysplasia punctata. Its principal clinical manifestations are flat midface and nose, short limbs, and…”
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    Parental consanguinity in specific types of congenital anomalies by Rittler, Mónica, Liascovich, Rosa, López-Camelo, Jorge, Castilla, Eduardo E.

    Published in American journal of medical genetics (22-07-2001)
    “…Parental consanguinity, as a recognized risk factor for congenital anomalies, has mainly been studied with a focus on the types of parental relationships and…”
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    Journal Article
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    PARTO PREMATURO Y CONSUMO DE TABACO: ESTUDIO EXPLORATORIO DE INTERACCIONES GEN-AMBIENTE by Elias, D, Campana, H, Poletta, F, Heisecke, S, Gili, J, Ratowiecki, J, Pawluk, M, Santos, MR, Cosentino, V, Uranga, R, Málaga, D Rojas, Netto, A Brinckmann Oliveira, Brusius-Facchin, AC, Saleme, C, Rittler, M, Krupitzki, H, Camelo, J Lopez, Gimenez, L

    Published in BAG. Journal of basic and applied genetics (01-10-2021)
    “…El parto prematuro (PP) es la principal afección relacionada con la morbimortalidad perinatal en el mundo. El objetivo de este trabajo exploratorio fue…”
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    Journal Article
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    Sex ratio and associated risk factors for 50 congenital anomaly types: Clues for causal heterogeneity by Rittler, Monica, López-Camelo, Jorge, Castilla, Eduardo E.

    “…BACKGROUND Sex ratio (SR) deviations have been reported for many congenital anomalies, but so far no satisfactory explanation for these deviations has been…”
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    Short interbirth interval and adverse pregnancy outcomes: a Bayesian network approachAJOG Global Reports at a Glance by Silvina L. Heisecke, DVM, Hebe Campaña, MSc, PhD, María R. Santos, BSc, PhD, Jorge S. López Camelo, MSc, PhD, Mónica Rittler, MD, PhD

    Published in AJOG global reports (01-11-2024)
    “…Background: Interbirth interval (IBI), the time between consecutive births, has been tied to perinatal outcomes. Objective: To analyze adverse perinatal events…”
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    Thalidomide, a current teratogen in South America by Castilla, E. E., Ashton-Prolla, P., Barreda-Mejia, E., Brunoni, D., Cavalcanti, D. P., Correa-Neto, J., Delgadillo, J. L., Dutra, M. G., Felix, T., Giraldo, A., Juarez, N., Lopez-Camelo, J. S., Nazer, J., Orioli, I. M., Paz, J. E., Pessoto, M. A., Pina-Neto, J. M., Quadrelli, R., Rittler, M., Rueda, S., Saltos, M., Sánchez, O., Schüler, L.

    Published in Teratology (Philadelphia) (01-12-1996)
    “…Thalidomide, mainly used for the treatment of leprosy, is a current teratogen in South America, and it is reasonable to assume that at present this situation…”
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    Achondrogenesis type II with polydactyly by Rittler, M, Orioli, I M

    Published in American journal of medical genetics (06-11-1995)
    “…We report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer-Saldino), and who also showed postaxial polydactyly on…”
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    Monitoring congenital rubella embryopathy by Rittler, Monica, López-Camelo, Jorge, Castilla, Eduardo E.

    “…BACKGROUND Currently, all developed countries include rubella vaccination in their immunization programs, targeting the complete elimination of congenital…”
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    Journal Article
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    Risks of congenital anomalies in large for gestational age infants by Lapunzina, Pablo, Camelo, Jorge S.López, Rittler, Monica, Castilla, Eduardo E.

    Published in The Journal of pediatrics (01-02-2002)
    “…Objectives: To evaluate the association between large for gestational age (LGA) and demographic and medical risk factors as well as specific types of…”
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    Proximal trisomy 1q in a girl with developmental delay and minor anomalies by Furforo, Lilian, Rittler, Mónica, Slavutsky, Irma R.

    Published in American journal of medical genetics (06-09-1996)
    “…We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short…”
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    Journal Article Conference Proceeding
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    Consanguinity in South America: demographic aspects by Liascovich, R, Rittler, M, Castilla, E E

    Published in Human heredity (2001)
    “…A sample of 53,552 nonmalformed liveborn infants was ascertained by the Latin-American Collaborative Study of Congenital Malformations between 1967 and 1996…”
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