Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact.

abstract：:Use of an intragenic BamHI restriction fragment length polymorphism within the 5' end of the retinoblastoma gene (RB1) provided improved genetic counselling for five familial and ten non-familial retinoblastoma patients and their relatives. All other polymorphic probes within RB1 were uninformative in three families, ...

journal_title：Clinical genetics

authors： Goddard AD,Phillips RA,Greger V,Passarge E,Höpping W,Zhu XP,Gallie BL,Horsthemke B

更新日期：1990-02-01 00:00:00

abstract：:Cystic fibrosis in the northern sector of the French "département" of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic...

journal_title：Clinical genetics

authors： Bois E,Feingold J,Demenais F,Runavot Y,Jehanne M,Toudic L

更新日期：1978-08-01 00:00:00

abstract：:Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function w...

journal_title：Clinical genetics

authors： Sellars S,Beighton P

更新日期：1983-05-01 00:00:00

abstract：:It has been suggested that patients with autosomal recessive merosin deficient congenital muscular dystrophy (CMD), as opposed to the merosin positive cases form a homogeneous subgroup of a clinically more severe form of CMD. We examined merosin expression in muscle biopsies from five children with the severe classica...

journal_title：Clinical genetics

authors： Vajsar J,Chitayat D,Becker LE,Ho M,Ben-Zeev B,Jay V

更新日期：1998-09-01 00:00:00

abstract：:Lee S-C, Guo J-Y, Lim R, Soo R, Koay E, Salto-Tellez M, Leong A, Goh B-C. Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia. Hereditary non-polyposis colorectal cancer (HNPCC), predominantly due to germline MLH1/MSH2 mutations, is the commonest form of here...

journal_title：Clinical genetics

authors： Lee SC,Guo JY,Lim R,Soo R,Koay E,Salto-Tellez M,Leong A,Goh BC

更新日期：2005-08-01 00:00:00

abstract：:NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare, and only 1 patient with a de no...

journal_title：Clinical genetics

authors： Lévy J,Grotto S,Mignot C,Maruani A,Delahaye-Duriez A,Benzacken B,Keren B,Haye D,Xavier J,Heulin M,Charles E,Verloes A,Dupont C,Pipiras E,Tabet AC

更新日期：2018-08-01 00:00:00

abstract：:Three children with deletions of the terminal portion of the long arm of chromosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac ano...

journal_title：Clinical genetics

authors： Conrad B,Dewald G,Christensen E,Lopez M,Higgins J,Pierpont ME

更新日期：1995-09-01 00:00:00

abstract：:Incorporation of hypoxanthine, resistance to 8-azaguanine and activation by lyophilisation have been studied in cultured human fibroblasts. Cells from one family where there was a boy with Lesch-Nyham syndrome, from two families with variant H-PRT mutations and three cell strains from patients with the Lesch-Nyham syn...

journal_title：Clinical genetics

authors： Willers I,Held KR,Singh S,Goedde HW

更新日期：1977-03-01 00:00:00

abstract：:Important insights in the process of genetic counseling can be provided by establishing levels of satisfaction. The aim of our study was to compare counselees' and counselors' satisfaction with the initial consultation in reproductive genetic counseling and to gain insight into the factors associated with their conten...

journal_title：Clinical genetics

authors： Aalfs CM,Oort FJ,de Haes JC,Leschot NJ,Smets EM

更新日期：2007-08-01 00:00:00

abstract：:We have conducted a study to assess the opinions of parents of individuals with mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for this condition, as testing is now technically possible. A questionnaire including a number of hypothetical clinical scenarios about NBS for MPS was distr...

journal_title：Clinical genetics

authors： Hayes IM,Collins V,Sahhar M,Wraith JE,Delatycki MB

更新日期：2007-05-01 00:00:00

abstract：:Genetic testing has the potential to guide the prevention and treatment of disease in a variety of settings, and recent technical advances have greatly increased our ability to acquire large amounts of genetic data. The interpretation of this data remains challenging, as the clinical significance of genetic variation ...

journal_title：Clinical genetics

authors： Eggington JM,Bowles KR,Moyes K,Manley S,Esterling L,Sizemore S,Rosenthal E,Theisen A,Saam J,Arnell C,Pruss D,Bennett J,Burbidge LA,Roa B,Wenstrup RJ

更新日期：2014-09-01 00:00:00

abstract：:Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in...

journal_title：Clinical genetics

authors： Jongkind JF,Verkerk A,Niermeijer MF

更新日期：1983-04-01 00:00:00

abstract：:Amniocentesis for advanced maternal age resulted in the demonstration of a supernumerary microchromosome in the amniotic fluid cells. Cytogenetic analysis of peripheral blood from the female infant revealed a mosaic karyotype 46,XX/47,XX, + marker. The only anomaly noted in the infant was talipes equinovarus. ...

journal_title：Clinical genetics

authors： Muneer RS,Himes JR,Payne-Howell RM,Thompson LM,Rennert OM

更新日期：1984-11-01 00:00:00

abstract：:Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. We have previously found homozygous mutations...

journal_title：Clinical genetics

authors： Zhang Z,Mu J,Zhao J,Zhou Z,Chen B,Wu L,Yan Z,Wang W,Zhao L,Dong J,Sun X,Kuang Y,Li B,Wang L,Sang Q

更新日期：2019-04-01 00:00:00

abstract：:Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q-) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysp...

journal_title：Clinical genetics

authors： Turleau C,Chavin-Colin F,Narbouton R,Asensi D,de Grouchy J

更新日期：1980-07-01 00:00:00

abstract：:We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which...

journal_title：Clinical genetics

authors： Goldblatt J,Smart RD

更新日期：1986-05-01 00:00:00

abstract：:Analysis of data from 56,664 marriages in Turkey studied from 1970 to 1988 showed an overall rate of consanguineous marriages, of 21.25%, and increases in the rates of abortions, stillbirths, prenatal losses and neonatal deaths. ...

journal_title：Clinical genetics

authors： Başaran N,Hassa H,Başaran A,Artan S,Stevenson JD,Sayli BS

更新日期：1989-09-01 00:00:00

abstract：:Germline mutations of the STK11 gene mapped to chromosome 19p13.3 are responsible for Peutz Jeghers syndrome (PJS), a dominant disorder associated with characteristic gastrointestinal hamartomatous polyps and a predisposition to various cancers. We conducted a detailed investigation of germline STK11 alterations by pr...

journal_title：Clinical genetics

authors： Jiang CY,Esufali S,Berk T,Gallinger S,Cohen Z,Tobi M,Redston M,Bapat B

更新日期：1999-08-01 00:00:00

abstract：:Lymphoblastoid cell lines have been established from nine female patients with Duchenne muscular dystrophy who had previously been reported to have chromosome translocations with breakpoints in the Xp21 region. A detailed cytogenetic comparison of prometaphase chromosomes in these cell lines revealed that six of the t...

journal_title：Clinical genetics

authors： Boyd Y,Buckle VJ

更新日期：1986-02-01 00:00:00

abstract：:A female infant with multiple dysmorphic features and developmental delay was found to have partial duplication of the long arm of chromosome 2 and partial deletion of the long arm of chromosome 11 derived from a paternal balanced translocation, 46,XY,t(2;11)(q33:q25). Clinically, the infant had features of both 2q+ a...

journal_title：Clinical genetics

authors： Ardinger HH,Patil SR,Rhead WJ

更新日期：1987-06-01 00:00:00

abstract：:Patients with restrictive cardiomyopathy (RC) have impaired diastolic function, but intact systolic function until later stages of the disease, ultimately leading to heart failure. Primary RC is often sporadic, but also may be inherited in an autosomal dominant fashion, particularly the idiopathic forms. Recently ther...

journal_title：Clinical genetics

authors： Zhang J,Kumar A,Stalker HJ,Virdi G,Ferrans VJ,Horiba K,Fricker FJ,Wallace MR

更新日期：2001-04-01 00:00:00

abstract：:Two hundred and seventy-four patients with hemochromatosis and 1005 controls were HLA-typed, and HLA haplotypes were determined for 163 patients and 123 controls. The increased frequency of antigen A3 and haplotypes A3, B7 and A3, B14 in patients with hemochromatosis was confirmed. After correction for the space taken...

journal_title：Clinical genetics

authors： Le Mignon L,Simon M,Fauchet R,Edan G,Le Reun M,Brissot P,Genetet B,Bourel M

更新日期：1983-09-01 00:00:00

abstract：:Cancer screening recommendations for patients with Lynch-like syndrome (LLS) are not well defined. We evaluated adherence to Lynch syndrome (LS) screening recommendations, cancer risk perceptions, and communication within the families among colorectal cancer (CRC) survivors with LLS. Thirty-four participants with LLS ...

journal_title：Clinical genetics

authors： Katz LH,Burton-Chase AM,Advani S,Fellman B,Polivka KM,Yuan Y,Lynch PM,Peterson SK

更新日期：2016-03-01 00:00:00

abstract：:Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510. ...

journal_title：Clinical genetics

authors： Diamond J

更新日期：2014-11-01 00:00:00

abstract：:We describe two patients, a 19-year-old girl and a 19-year-old boy, with mosaic trisomy 18 and pigmentary dysplasias. Both patients had profound growth and mental retardation, marked kyphoscoliosis, bushy eyebrows, bulbous nose, simple ears, and joint contractures - clinical manifestations of long survivors with mosai...

journal_title：Clinical genetics

authors： Murano I,Ohashi H,Tsukahara M,Tonoki H,Okino F,Atsumi M,Kajii T

更新日期：1991-01-01 00:00:00

abstract：:We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood wit...

journal_title：Clinical genetics

authors： Geremek M,Dudarewicz L,Obersztyn E,Paczkowska M,Smyk M,Sobecka K,Nowakowska B

更新日期：2020-04-01 00:00:00

abstract：:The Troyer syndrome was found by Cross & McKusick (1967) in 20 members of 12 Old Order Amish families in Holmes County, Ohio; it is a form of hereditary spastic paraplegia combined with distal muscle wasting, i.e. signs of involvement of lower motor neurons. The condition usually begins at 1 to 2 years and progresses ...

journal_title：Clinical genetics

authors： Neuhäuser G,Wiffler C,Opitz JM

更新日期：1976-03-01 00:00:00

abstract：:Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. A retrospective review of the clinical records and radiological images of 205 patients with tuberous sclerosis complex (TSC) was performed to evaluate the prevalence and progression of hepatic lesions; examine the association of...

journal_title：Clinical genetics

authors： Black ME,Hedgire SS,Camposano S,Paul E,Harisinghani M,Thiele EA

更新日期：2012-12-01 00:00:00

abstract：:Kidney and urinary tract malformations are among the most frequent developmental defects identified in newborns. Ranging from asymptomatic to neonatal lethal, these malformations represent an important clinical challenge. Recent progress in understanding the developmental origin of urinary tract defects in the mouse a...

journal_title：Clinical genetics

authors： Uetani N,Bouchard M

更新日期：2009-04-01 00:00:00

abstract：:A sample of psychotic and prepsychotic twins is presented, based on 9000 patients born during 1930--1946 and admitted to psychiatric departments in Scania, Sweden, during the 1960's. All twins of the same sex (76 pairs) were registered and their records examined. Twenty-three complete pairs, where one or both twins sh...

journal_title：Clinical genetics

authors： Eberhard G

更新日期：1981-05-01 00:00:00