Zobrazeno 1 - 10
of 12
pro vyhledávání: '"B 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. 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
Autor:
B R, Rollnick
Publikováno v:
Birth defects original article series. 20(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71dbe62e3c4de3fba028bbd229acbaa6
https://pubmed.ncbi.nlm.nih.gov/6442968
https://pubmed.ncbi.nlm.nih.gov/6442968
Publikováno v:
The Cleft palate journal. 26(4)
A comprehensive review and critical analysis of oculoauriculovertebral spectrum are provided. Topics discussed include nosologic problems, epidemiology, etiology (chromosomal, monogenic, teratogenic), and pathogenesis (hematoma formation, other vascu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::22c4c881fc83d3f88977c8aaea7a5053
https://pubmed.ncbi.nlm.nih.gov/2680167
https://pubmed.ncbi.nlm.nih.gov/2680167
Publikováno v:
Birth defects original article series. 18(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1b652a3de7b184f499a1f30d23604af5
https://pubmed.ncbi.nlm.nih.gov/7115910
https://pubmed.ncbi.nlm.nih.gov/7115910
Autor:
B. R. Rollnick
Publikováno v:
Clinical genetics. 33(3)
Two brothers with Crouzon craniofacial dysostosis syndrome born to normal unrelated parents are described. Paternity studies show the probability of paternity is 99.6%. This report appears to represent the first example of germinal mosaicism in Crouz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf7f094fff179052cf9df97605720139
https://pubmed.ncbi.nlm.nih.gov/3359675
https://pubmed.ncbi.nlm.nih.gov/3359675
Autor:
B R, Rollnick, C I, Kaye
Publikováno v:
Journal of craniofacial genetics and developmental biology. Supplement. 1
Hemifacial microsomia (HFM) and the branchio-oto-renal syndrome (BOR) are both associated with malformations of the external ears; preauricular tags, pits, or sinuses; and conductive or mixed hearing loss. Other overlapping features have been describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::385fb9ef423cda563058bfa2f0bced3d
https://pubmed.ncbi.nlm.nih.gov/3877103
https://pubmed.ncbi.nlm.nih.gov/3877103
Publikováno v:
American journal of medical genetics. Supplement. 4
The oculoauriculovertebral anomaly is a complex developmental field defect. There is lack of agreement on the minimal diagnostic criteria and the phenotypic spectrum. Causal heterogeneity has been described. This report reviews aspects of phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72908f6f8e7d102147f22b86f04886c0
https://pubmed.ncbi.nlm.nih.gov/3144985
https://pubmed.ncbi.nlm.nih.gov/3144985
Publikováno v:
The Cleft palate journal. 20(2)
This is a report of a family with lymphedema praecox and cleft palate. The mother had only lymphedema of the lower extremities; she gave birth to five sons, 3 of whom had both lymphedema of the lower extremities and cleft palate. Others have reported
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::79901716a358c364b6e30873c312eeb5
https://pubmed.ncbi.nlm.nih.gov/6342849
https://pubmed.ncbi.nlm.nih.gov/6342849