Search Results - "Rittler, M"
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1
Grebe syndrome: a second case with extremely severe manifestations
Published in Journal of medical genetics (01-12-1997)Get full text
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2
Postaxial polydactyly and Dandy-Walker malformation. Further nosological comments
Published in Clinical genetics (01-12-1999)Get full text
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3
47,XYY karyotype and normal SRY in a patient with a female phenotype
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-06-2001)“…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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4
Chondrodysplasia punctata, tibia-metacarpal (MT) type
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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5
Parental consanguinity in specific types of congenital anomalies
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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PARTO PREMATURO Y CONSUMO DE TABACO: ESTUDIO EXPLORATORIO DE INTERACCIONES GEN-AMBIENTE
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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7
Sex ratio and associated risk factors for 50 congenital anomaly types: Clues for causal heterogeneity
Published in Birth defects research. A Clinical and molecular teratology (01-01-2004)“…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
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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9
Cataract extraction in the retinal detachment-prone patient
Published in American journal of ophthalmology (01-01-1972)Get more information
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10
Fetal Mortality: Preliminary Results from a Perinatal Pathology Data Base
Published in Pediatric research (01-05-2003)Get full text
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Neonatal Mortality: Preliminary Results from a Perinatal Pathology Data Base
Published in Pediatric research (01-05-2003)Get full text
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12
Sex and congenital malformations: An international perspective
Published in American journal of medical genetics. Part A (01-04-2005)“…The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen…”
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13
Thalidomide, a current teratogen in South America
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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14
Achondrogenesis type II with polydactyly
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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15
Monitoring congenital rubella embryopathy
Published in Birth defects research. A Clinical and molecular teratology (01-12-2004)“…BACKGROUND Currently, all developed countries include rubella vaccination in their immunization programs, targeting the complete elimination of congenital…”
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16
Risks of congenital anomalies in large for gestational age infants
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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17
Proximal trisomy 1q in a girl with developmental delay and minor anomalies
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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18
The effects of lasers on the eye
Published in Annals of the New York Academy of Sciences (01-02-1969)Get more information
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Photocoagulation of vascular lesions of the macula
Published in American journal of ophthalmology (01-09-1968)Get more information
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20
Consanguinity in South America: demographic aspects
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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