Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Barbara, Barrano"'
Autor:
Giovanni Bartoloni, Antonella Cataliotti, Sebastiano Bianca, Giuseppe Ettore, Gustavo Boemi, Vincenzo De Filippo, Barbara Barrano, Lara Indaco, Chiara Barone
Publikováno v:
Congenital Heart Disease. 5:450-453
Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::39cbafe28ee1b2c5cceb08f278a29135
https://doi.org/10.1111/j.1747-0803.2010.00400.x
https://doi.org/10.1111/j.1747-0803.2010.00400.x
Autor:
Barbara Barrano, Chiara Barone, Giuseppe Ettore, Lara Indaco, Elisa Pappalardo, Antonella Cataliotti, Giovanni Bartoloni, Sebastiano Bianca
Publikováno v:
Archives of Gynecology and Obstetrics. 284:509-511
45,X/46,XY mosaicism is an uncommon chromosomal anomaly with a range of phenotypes from normal males to cases of multiple congenital anomalies.We report a case with associated cleft lip and epispadias prenatally diagnosed with autopsy evidences.Our c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d5a0cc2dafda5b58974eb0177162441
https://doi.org/10.1007/s00404-011-1928-4
https://doi.org/10.1007/s00404-011-1928-4
Publikováno v:
American Journal of Medical Genetics Part A. :792-794
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3b93c7ab277516e791a3160c40849269
https://doi.org/10.1002/ajmg.a.33255
https://doi.org/10.1002/ajmg.a.33255
Publikováno v:
Annales de Génétique. 45:105-107
Hyperphenylalaninemias (HPAs) are due to autosomal recessive inherited deficiency of phenylalanine hydroxylase and include three different biochemical and clinical phenotypes: classic phenylketonuria, mild phenylketonuria and persistent HPA. Recently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c48786cdcb6e314feaea47123b03def
https://doi.org/10.1016/s0003-3995(02)01127-9
https://doi.org/10.1016/s0003-3995(02)01127-9
Autor:
Sebastiano, Bianca, Giovanni, Bartoloni, Chiara, Barone, Barbara, Barrano, Gustavo, Boemi, Vincenzo, De Filippo, Lara, Indaco, Antonella, Cataliotti, Giuseppe, Ettore
Publikováno v:
Congenital heart disease. 5(5)
Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0d3b276dea039ae1b8747be980c920fe
https://pubmed.ncbi.nlm.nih.gov/21087431
https://pubmed.ncbi.nlm.nih.gov/21087431
Autor:
Sebastiano, Bianca, Giovanni, Bartoloni, Gustavo, Boemi, Barbara, Barrano, Chiara, Barone, Antonella, Cataliotti, Lara, Indaco, Giuseppe, Ettore
Publikováno v:
Congenital anomalies. 50(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be12afafdab37cd01530bf6315026715
https://pubmed.ncbi.nlm.nih.gov/20156236
https://pubmed.ncbi.nlm.nih.gov/20156236
Autor:
Chiara Barone, Lara Indaco, Sebastiano Bianca, Antonella Cataliotti, Giuseppe Ettore, Nunzio Cutuli, Barbara Barrano, Gabriella Milana
Publikováno v:
Fertility and sterility. 93(1)
Our study does not support the reported association between APOE and recurrent pregnancy loss (RPL) than the clinical management of these patients should not be influenced by the presence or not of APO E polymorphisms.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f46f9ea2992cf790ce6d6cd1db8fa9e6
https://pubmed.ncbi.nlm.nih.gov/20117776
https://pubmed.ncbi.nlm.nih.gov/20117776
Autor:
Barbara Barrano, Antonella Cataliotti, Giuseppe Ettore, Sebastiano Bianca, Nunzio Cutuli, Gabriella Milana, Chiara Barone, Lara Indaco
Publikováno v:
Fertility and sterility. 92(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44974e32856521b55bf4c74279d2459a
https://pubmed.ncbi.nlm.nih.gov/19476939
https://pubmed.ncbi.nlm.nih.gov/19476939
Autor:
Sebastiano Bianca, Giovanni Bartoloni, Elisa Pappalardo, Lara Indaco, Antonella Cataliotti, Chiara Barone, Giuseppe Ettore, Barbara Barrano
Publikováno v:
Congenital Anomalies. 52:64-65
Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1a5ce5a2f397a780745d399261e62a0f
https://doi.org/10.1111/j.1741-4520.2011.00325.x
https://doi.org/10.1111/j.1741-4520.2011.00325.x
Publikováno v:
Acta haematologica. 104(2-3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d329af470dd9df8952812331c73e27
https://pubmed.ncbi.nlm.nih.gov/11154995
https://pubmed.ncbi.nlm.nih.gov/11154995