Zobrazeno 1 - 10
of 28
pro vyhledávání: '"R. Rollnick"'
Autor:
B. R. Rollnick
Publikováno v:
Clinical Genetics. 33:87-90
This report presents the first example of male transmission of Apert acrocephalosyndactyly syndrome. Female transmission has been reported in the five previous well-documented cases of dominant inheritance of the syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c06906f2bfacdd89ab3ef7967b7b25
https://doi.org/10.1111/j.1399-0004.1988.tb03416.x
https://doi.org/10.1111/j.1399-0004.1988.tb03416.x
Publikováno v:
American Journal of Medical Genetics. 40:290-293
We present a patient with oculocerebrocutaneous syndrome. The boy shows only mild psychomotor delay in spite of rather severe appearing anomalies of the central nervous system. A primarily unilateral involvement of this syndrome is emphasized. A post
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::200819bf8650facd12706ecb1a301724
https://doi.org/10.1002/ajmg.1320400308
https://doi.org/10.1002/ajmg.1320400308
Autor:
Celia I. Kaye, Alice O. Martin, Beverly R. Rollnick, R. Rollnick, Konrad Nagatoshi, Jeannette Israel, Mark Hermanoff, Brad Tropea, Joan T. Richtsmeier, Newton E. Morton
Publikováno v:
American journal of medical genetics. 43(6)
Seventy-four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 off-spring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For seg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aacf64b4d8690fb41d69ea46b8de8928
https://pubmed.ncbi.nlm.nih.gov/8322831
https://pubmed.ncbi.nlm.nih.gov/8322831
Autor:
Beverly R. Rollnick, Francis Beards, George E. Hoganson, David I. Hoar, L. Leigh Field, M.D. Joe J. Hoo
Publikováno v:
American journal of medical genetics. 42(2)
Detailed physical mapping of oto-palato-digital (OPD) syndrome gene on the X-chromosome was attempted on a family of 3 generations with 2 affected men. Although the result remains statistically non-significant, it indicates that the OPD-I gene might
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1371a2382c953025913e85c753ec587a
https://pubmed.ncbi.nlm.nih.gov/1733165
https://pubmed.ncbi.nlm.nih.gov/1733165
Publikováno v:
FMC - Formación Médica Continuada en Atención Primaria. 10:747
Objetivo Determinar la efectividad de los programas de cribado de intervencion breve para el consumo excesivo de alcohol en atencion primaria Fuente de datos Se hizo una revision sistematica y un metaanalisis de los ensayos clinicos aleatorizados que
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6704e91cecb81b0762e45231a921007e
https://doi.org/10.1016/s1134-2072(03)76064-2
https://doi.org/10.1016/s1134-2072(03)76064-2
Publikováno v:
American Journal of Medical Genetics. 24:465-473
Isolated, apparently nonsyndromic cleft palate (CP) is thought to be etiologically heterogeneous. The multifactorial threshold explanation for CP is postulated in most cases. Mendelian inheritance has been documented in 3 families. We report on three
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9e90bdf0bdeb35980831a03e50e5902
https://doi.org/10.1002/ajmg.1320240309
https://doi.org/10.1002/ajmg.1320240309
Publikováno v:
American Journal of Medical Genetics. 15:233-253
Ear malformations occur per se or together with other congenital anomalies. Many syndromes with ear malformations have been described. We have studied propositi with hemifacial microsomia (HFM) or Goldenhar syndrome (GS), also called oculoauriculover
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b39701ad367484d45dfd4cc7dd1e9817
https://doi.org/10.1002/ajmg.1320150207
https://doi.org/10.1002/ajmg.1320150207
Publikováno v:
American Journal of Medical Genetics. 29:131-136
Here we report on 13 individuals with the EEC syndrome from a single craniofacial clinic population. Eight of 13 underwent genitourinary (GU) evaluation; all had abnormal findings. Seven had anomalies of the urinary tract, and 3 had genital anomalies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc532f5d0e671eccd47821a34cba5183
https://doi.org/10.1002/ajmg.1320290116
https://doi.org/10.1002/ajmg.1320290116
Autor:
B R, Rollnick, S, Pruzansky
Publikováno v:
The Cleft palate journal. 18(4)
Advances in medical genetics and syndrome delineation have demonstrated that many clinical entities are an expression of genetic variability. Assessment of the population at the Center for Craniofacial Anomalies of the University of Illinois Medical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c974db5897798f84e737e20795675bd
https://pubmed.ncbi.nlm.nih.gov/7026087
https://pubmed.ncbi.nlm.nih.gov/7026087