Search Results - "Barness, Enid Gilbert"
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Obesity: Genetic, molecular, and environmental aspects
Published in American journal of medical genetics. Part A (15-12-2007)“…Obesity has emerged as one of the most serious public health concerns in the 21st century. Obese children tend to become obese adults. The dramatic rise in…”
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ADAM "sequence" part II: Hypothesis and speculation
Published in American journal of medical genetics. Part A (01-03-2015)“…Noted for centuries in humans, a relatively hairless mammal [e.g., Hallero, 1766; Hohl, 1828 in Klunker, 2003], the so‐called amniotic deformities, adhesions,…”
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3
Defects of blastogenesis
Published in American journal of medical genetics (30-12-2002)“…Ever more frequent and closer involvement by clinical geneticists and counselors in the prenatal assessment of development mandates a better understanding of…”
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Festschrift for Dr. John M. Opitz: Pathogenesis of cardiac conduction disorders in children genetic and histopathologic aspects
Published in American journal of medical genetics. Part A (01-10-2006)“…Fetal dysrhythmias are usually transient. Abnormal fetal rates and rhythms during labor are “functional.” Fetal dysrhythmias may be associated with congenital…”
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Splenogonadal fusion‐limb defect “syndrome” and associated malformations
Published in American journal of medical genetics. Part A (01-08-2003)“…Two types of splenogonadal fusion (SGF) have been proposed. In the continuous type the spleen is connected to the gonad, and often it is associated with limb…”
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Founders of Pediatric Pathology: Remembering Dr Marie Valdes-Dapena
Published in Pediatric and developmental pathology (01-05-2014)Get full text
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Conduction Defects/Cardiomyopathies
Published in Advances in pediatrics (01-08-2014)Get full text
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Sirenomelia sequence according to the distance between the first sacral vertebra and the ilia
Published in American journal of medical genetics. Part A (01-08-2003)“…The development of the iliac bones and lower limbs are parallel processes depending on the normal ontogeny of the caudal blastema [O'Rahilly and Müller, 1989;…”
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Postmortem Ultrasonography of the Macerated Fetus Complements Autopsy following in Utero Fetal Demise
Published in Pediatric and developmental pathology (01-05-2014)“…Postmortem evaluation following an in utero fetal demise is essential for determining cause of death and counseling regarding future pregnancies. Severe…”
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PATHOLOGY TEACH AND TELL: ACROCEPHALOSYNDACTYLY TYPE I (APERT SYNDROME)
Published in Fetal and pediatric pathology (01-03-2004)Get full text
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Conjoined twins: Morphogenesis of the heart and a review
Published in American journal of medical genetics. Part A (01-08-2003)“…Five cases of conjoined twins have been studied. These included three thoracopagus twins, one monocephalus diprosopus (prosop = face), and one dicephalus dipus…”
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Teratogenic causes of malformations
Published in Annals of clinical and laboratory science (2010)“…Crucial morphogenetic processes during the blastogenesis period, which extends throughout the first 4 wk of development, from fertilization until the end of…”
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Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase
Published in Journal of perinatology (01-07-2005)“…Sialidosis is a lysosomal storage disease characterized by accumulation of sialylated oligosaccharides in tissues, blood and urine and is caused by mutations…”
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Founders of Pediatric Pathology: Marie Valdés-Dapena
Published in Pediatric and developmental pathology (01-09-2006)Get full text
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15
Human Teratogens: Current Controversies
Published in Advances in pediatrics (2008)Get full text
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Histological and Ultrastructural Features of Atherosclerosis in Progeria
Published in Cardiovascular pathology (1999)“…This histological and ultrastructural study of a limited amount of vascular tissue from a progeric woman of 20 years who died of traumatic subdural hemorrhage…”
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Documentation of anomalies not previously described in Fryns syndrome
Published in American journal of medical genetics. Part A (15-01-2003)“…We report on a case of Fryns syndrome with microcephaly, multiple facial anomalies, hypoplasia of distal phalanges, diaphragmatic defect with a thin,…”
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CLINICOPATHOLOGIC CONFERENCE: BARTH SYNDROME
Published in Fetal and pediatric pathology (01-01-2005)“…A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current…”
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Fetus‐in‐fetu form of monozygotic twinning with retroperitoneal teratoma
Published in American journal of medical genetics. Part A (30-07-2003)“…One of the commonest defects of blastogenesis is monozygotic twinning resulting in separate or conjoint twins, the latter including a category of internal,…”
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Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies
Published in American journal of medical genetics (15-07-2001)“…A male infant was liveborn at 38 weeks of gestation to a G4P1AB2, 22‐year‐old, mother. Polyhydramnios and multiple congenital anomalies were noted by…”
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