Wiley

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Onset in the seventh decade and lack of symptoms in heterozygotes for the TTRMet30 mutation in hereditary amyloid neuropathy—type I (Portuguese, Andrade)
Wiley - Tập 27 Số 2 - Trang 345-357 - 1987
Jorge Sequeiros, Maria João Saraiva, John M. Opitz, James F. Reynolds
AbstractIn a Portuguese‐American family with hereditary amyloid neuropathy (familial amyloidotic polyneuropathy), onset was in the seventh decade in all affected relatives. Another unusual characteristic was their origin from the Portuguese island of Madeira. In spite of this, the mutant transthyretin (TTRMet30) (the same variant prealbumin that is the circulating precursor of AFP protein in the c... hiện toàn bộ
Mandibulofacial dysostosis (Treacher Collins syndrome): A new proposal for its pathogenesis
Wiley - Tập 27 Số 2 - Trang 359-372 - 1987
Kathleen K. Sulik, Malcolm C. Johnston, Scott Smiley, Holly Speight, Bennie E. Jarvis, John M. Opitz, James F. Reynolds
AbstractAcute exposure to 400 mg/kg 13‐cis retinoic acid (13‐cis F U, isotretinoin, Accutane®) on the ninth day postfertilization in mice (a time that corresponds to the fourth week postfertilization in humans) results in malformations that characterize mandibulofacial dysostosis (MFD, Treacher Collins syndrome). Deficiencies in the infraorbital region and in the mandibular ramus and condyle, abno... hiện toàn bộ
Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor
Wiley - Tập 10 Số 1 - Trang 91-99 - 1981
Leonard Pinsky, Morris Kaufman, Robert L. Summitt, John M. Opitz
AbstractComplete or incomplete androgen insensitivity (AI) not associated with deficient specific 5α‐dihydrotestosterone (DHT)‐receptor activity in cultured genital skin fibroblasts may result from a qualitative receptor abnormality or a postreceptor defect in target cell sensitivity to DHT. We have studied a sporadic patient with complete AI whose mean receptor capacity (Bmax) is 34 fmol/mg prote... hiện toàn bộ
Additional evidence that genetic variation of MAO‐A gene supports a gender subtype in obsessive‐compulsive disorder
Wiley - Tập 105 Số 3 - Trang 279-282 - 2001
Beatríz Camarena, Gina Rinetti, Carlos Cruz, Amalia Gómez-Cotero, Juan Ramón De La Fuente, Humberto Nicolini
AbstractStudies have recently reported a sexually dimorphic association between obsessive‐compulsive disorder (OCD) and a polymorphism related with variations in MAO‐A activity. These observations suggest the possibility of gender differences in genetic susceptibility for OCD. We thus reexamined the MAO‐A/EcoRV polymorphism in a sample of 122 OCD patients and 124 healthy subjects. An excess of all... hiện toàn bộ
DRD4 dopamine receptor genotype and CSF monoamine metabolites in Finnish alcoholics and controls
Wiley - Tập 60 Số 3 - Trang 199-205 - 1995
Megan Adamson, James L. Kennedy, Artūras Petronis, Michael Dean, Matti Virkkunen, Markku Linnoila, David Goldman
AbstractThe DRD4 dopamine receptor is thus far unique among neurotransmitter receptors in having a highly polymorphic gene structure that has been reported to produce altered receptor functioning. These allelic variations are caused by a 48‐bp segment in exon III of the coding region which may be repeated from 2–10 times. Varying the numbers of repeated segments changes the length, structure, and,... hiện toàn bộ
MTHFR is not a risk factor in the development of isolated nonsyndromic cleft lip and palate
Wiley - Tập 110 Số 4 - Trang 404-405 - 2002
Susan H. Blanton, Sketa Patel, Jacqueline T. Hecht, John B. Mulliken
The Meckel syndrome: Clinicopathological findings in 67 patients
Wiley - Tập 18 Số 4 - Trang 671-689 - 1984
Riitta Salonen, John M. Opitz, James F. Reynolds
AbstractA nationwide study on the Meckel syndrome (MS) was carried out covering retrospectively the years 1970–1979 and prospectively the years 1980–1981. Sixty‐seven cases from 48 Finnish families were found. The clinical and pathological findings were studied. Cystic dysplasia of the kidneys was present in all the cases where sufficient information was available. In all 41 cases with specimens a... hiện toàn bộ
Prenatal diagnosis of Meckel syndrome: Case reports and literature review
Wiley - Tập 18 Số 4 - Trang 699-711 - 1984
Virginia P. Johnson, David Holzwarth, John M. Opitz, James F. Reynolds
AbstractWe report on 2 couples at risk to have Meckel syndrome (MS) offspring. Three pregnancies were monitored by ultrasonography and alpha‐fetoprotein (AFP) assay in midtrimester. Of the 2 involving an affected fetus, one was thought to be unaffected.A literature survey was undertaken. Sources of error seem to lie in the heterogeneity of clinical manifestations and the variable onset and rate of... hiện toàn bộ
The Meckel syndrome in Finland: Epidemiologic and genetic aspects
Wiley - Tập 18 Số 4 - Trang 691-698 - 1984
Riitta Salonen, Reijo Norio, John M. Opitz, James F. Reynolds
AbstractEstimates of the incidence of the Meckel syndrome (MS) from different parts of the world vary from 1:140,000 to 1:13,250 births. In this nationwide study performed in Finland, the incidence of 1:14,400 births was found by retrospective ascertainment during the period 1970–1979, while the incidence was 1:8,500 births when prospective monitoring was performed in 1980–1981. The most probable ... hiện toàn bộ
Survival and spectrum of anomalies in the meckel syndrome
Wiley - Tập 14 Số 3 - Trang 417-421 - 1983
R. Brian Lowry, Robert H. Hill, Bluma Tischler
AbstractWe present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the Meckel syndrome. Diagnosis in case 1 was delayed because of two factors: (1) prolonged survival (28 mo), and (2) the absence of severe craniofacial malformations. These two factors may create difficulties in making this diagnosis ... hiện toàn bộ
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