Zobrazeno 1 - 10
of 49
pro vyhledávání: '"L, Suslak"'
Publikováno v:
American journal of medical genetics. 72(2)
A 45,X chromosome complement was found in the lymphocytes and skin fibroblast cultures of a male infant with minor facial anomalies and gastrointestinal abnormalities. Fluorescence in situ hybridization (FISH) studies with DNA probes specific for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5cbec612d0e6c94e198d8b0ff89cfbfb
https://pubmed.ncbi.nlm.nih.gov/9382131
https://pubmed.ncbi.nlm.nih.gov/9382131
Autor:
S L, Christian, A C, Smith, M, Macha, S H, Black, F F, Elder, J M, Johnson, R G, Resta, U, Surti, L, Suslak, M S, Verp, D H, Ledbetter
Publikováno v:
Prenatal diagnosis. 16(4)
Maternal uniparental disomy 15 (UPD15), responsible for approximately 25 per cent of Prader-Willi syndrome cases, is usually caused by maternal meiosis I non-disjunction associated with advanced maternal age. These cases may initially be detected as
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::119d381099cf5a6fa13ae80571b8236c
https://pubmed.ncbi.nlm.nih.gov/8734806
https://pubmed.ncbi.nlm.nih.gov/8734806
Autor:
L. Suslak, Albert Schinzel, J. Wagstaff, Ling-Yu Shih, Carlo Baccichetti, H. Aviv, F. Bernasconi, Wendy P. Robinson, L. Artifoni, Emilio Franzoni
Publikováno v:
Scopus-Elsevier
A patient with Angelman syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q11: q11-->pter) karyotype and a patient with Prader-Willi syndrome and a 46,XY/47,XY,+inv dup(15)(pter-->q12: q12-->pter) karyotype were investigated with molecular markers along
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::562f6529ff933505728916ee9f29e085
https://europepmc.org/articles/PMC1016533/
https://europepmc.org/articles/PMC1016533/
Publikováno v:
Obstetrics and gynecology. 78(5 Pt 2)
This is a report of second-trimester prenatal diagnosis of Crouzon syndrome suggested by binocular and interorbital diameter measurement and family history. Early prenatal diagnosis provides the option of termination or optimal postnatal management f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5715d804e596db9aaf4a2006266369b3
https://pubmed.ncbi.nlm.nih.gov/1923223
https://pubmed.ncbi.nlm.nih.gov/1923223
Publikováno v:
Genetics in Medicine. 2:84
This youngster presented at 10 years of age with bilateral genu valgum and rapidly progressive sensorineural hearing loss. Prior history was significant for delayed motor milestones in early childhood, but normal cognitive development. Family history
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2f04649f1557e9d9bc73c33b3341350
https://doi.org/10.1097/00125817-200001000-00118
https://doi.org/10.1097/00125817-200001000-00118
Autor:
L. Suslak, Irene N. Sills, L Goode, Kathryn A. Skuza, H. Aviv, Ling Yu Shih, Robert Rapaport, Franklin Desposito, J. Wagstaff
Publikováno v:
Pediatric Research. 33:S91-S91
PWS has been associated with deletion of paternal 15q11-13 or maternal uniparental disomy of chromosome 15 (chr 15) (imprinting). We describe a boy with PWS with maternal uniparental disomy of chr 15 and an extra inverted duplicated chr 15 in 70% of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f602a9bda728f6434e4c61a1c3d92163
https://doi.org/10.1203/00006450-199305001-00526
https://doi.org/10.1203/00006450-199305001-00526
Publikováno v:
Neuropsychobiology. 2(1)
Morbidity risk and genetic transmission data on a small population of bipolar, unipolar and schizo-affective outpatients suggest a possible genetic overlap between bipolar and schizo-affective patients. There is a conspicuous absence of a homologous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::01a4d6296cc2aecdde324d9e0820d966
https://pubmed.ncbi.nlm.nih.gov/1004698
https://pubmed.ncbi.nlm.nih.gov/1004698
Publikováno v:
Neuropsychobiology. 2(1)
47 affectively ill psychiatric patients and their first-, second- and third-degree relatives were investigated by means of an interview and pedigree analysis to determine the incidence of psychiatric illness in their families. The percentage of psych
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::beb6212ca769fd82eebd86016ee8db47
https://pubmed.ncbi.nlm.nih.gov/1004697
https://pubmed.ncbi.nlm.nih.gov/1004697
Publikováno v:
American journal of veterinary research. 49(8)
Cardiovascular effects and pulmonary gas exchange were compared during conventional mechanical ventilation (CMV) and interrupted high-frequency, positive-pressure ventilation (IHFPPV) in 6 anesthetized ponies in dorsal recumbency. When the peak airwa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c3ad5e9c9eedfe6c07890d413148d9b6
https://pubmed.ncbi.nlm.nih.gov/3052192
https://pubmed.ncbi.nlm.nih.gov/3052192
Publikováno v:
Birth defects original article series. 21(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17eb45487a03cffd56b3adfea4eaa55a
https://pubmed.ncbi.nlm.nih.gov/4041575
https://pubmed.ncbi.nlm.nih.gov/4041575