Results of genetic screening of donors for artificial insemination.

Abstract:

:Only 47 of 61 (77%) medical students were selected as sperm donors for artificial insemination. Fourteen were excluded because of family history 1, eye disorders 7, oligospermia 5, permanent structural chromosome aberration 1.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Czeizel A,Szentesi I,Horváth L

doi

10.1111/j.1399-0004.1983.tb02221.x

subject

Has Abstract

pub_date

1983-08-01 00:00:00

pages

113-6

issue

2

eissn

0009-9163

issn

1399-0004

journal_volume

24

pub_type

杂志文章
  • Catecholamine metabolism in familial amyloid polyneuropathy.

    abstract::In order to evaluate the involvement of the peripheral autonomic nervous system in the pathogenesis of type 1 familial amyloid polyneuropathy, the urinary excretion rates of catecholamines and serum dopamine-beta-hydroxylase (DB/) activity were examined in 22 patients at various clinical stages. Changes in both indice...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1979.tb00860.x

    authors: Suzuki T,Tsuge I,Higa S,Hayashi A,Yamamura Y,Takaba Y,Nakajima A

    更新日期:1979-08-01 00:00:00

  • Development and disease of the photoreceptor cilium.

    abstract::Primary cilia are microtubule-rich hair-like extensions protruding from the surface of most post-mitotic cells. They act as sensory organelles that help interpret various environmental cues. Mutations in genes encoding proteins involved in ciliogenesis or protein transport to the primary cilia lead to a wide variety o...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1399-0004.2009.01240.x

    authors: Ramamurthy V,Cayouette M

    更新日期:2009-08-01 00:00:00

  • Molecular genetics of GM1 beta-galactosidase.

    abstract::The molecular genetics of GM1 beta-galactosidase is reviewed. This enzyme exists in two forms, A and B. Form A is monomeric with a molecular weight of 72,000 and appears to be coded by a single autosomal locus. Form B is polymeric and cross-reacts with anti-A antibodies; it is coded wholly or in part by the same locus...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:

    authors: O'Brien JS

    更新日期:1975-11-01 00:00:00

  • Clinical consequences of heterozygosity for autosomal-recessive diseases.

    abstract::Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong ...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:

    authors: Vogel F

    更新日期:1984-05-01 00:00:00

  • Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.

    abstract::Type 1a glycogen storage disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). Polymerase chain reaction (PCR) and nucleotide sequence analysis were used to identify the location and nature of mutations at the G6Pase locus in two siblings affected with typ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1996.tb02627.x

    authors: Lee WJ,Lee HM,Chi CS,Shu SG,Lin LY,Lin WH

    更新日期:1996-10-01 00:00:00

  • Early childhood development of four boys with 47, XXY karyotype.

    abstract::In an epidemiological study, infants identified at birth as having sex chromosome anomalies are enrolled in a voluntary, long term evaluations program. Case histories are presented of the first four boys in the series to have a 47,XXY karyotype. They have been followed from birth for 6 to 9 years, with physical and ps...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1975.tb00357.x

    authors: Puck M,Tennes K,Frankenburg W,Bryant K,Robinson A

    更新日期:1975-01-01 00:00:00

  • Cross-sectional assessment of pain and physical function in skeletal dysplasia patients.

    abstract::Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10 years) to describe pain prevalence, characteristics, and the relationship between pai...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.12045

    authors: Alade Y,Tunkel D,Schulze K,McGready J,Jallo G,Ain M,Yost T,Hoover-Fong J

    更新日期:2013-09-01 00:00:00

  • Lack of association of the common TaqIB polymorphism in the cholesteryl ester transfer protein gene with angiographically assessed coronary atherosclerosis.

    abstract::The anti-atherogenic effect of cholesteryl ester transfer protein (CETP) genetic variants associated with lowered enzyme activity is controversial. Moreover, in a few studies, this effect has been evaluated in the presence of a certain risk factor constellation. We addressed this issue in a case-control study, where 4...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1034/j.1399-0004.2001.600510.x

    authors: Arca M,Montali A,Ombres D,Battiloro E,Campagna F,Ricci G,Verna R

    更新日期:2001-11-01 00:00:00

  • Detection and interpretation of two different cell lines in triploid abortions.

    abstract::Among a series of 98 triploid abortions, there were four specimens with two cells lines. The detection of two clones was by Q-banding of chromosomes. Two of these four specimens were dizygotic twins, the third was either a mosaic or monozygotic twins with loss of a sex chromosome from one twin and the fourth was best ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1985.tb00415.x

    authors: Uchida IA,Freeman VC,Chen PL

    更新日期:1985-12-01 00:00:00

  • A gift or a yoke? Women's and men's responses to genetic risk information from BRCA1 and BRCA2 testing.

    abstract::This qualitative study explored the impact of genetic risk information from BRCA1/2 testing on individuals' subjective understandings of self and self-identity. In-depth interviews were conducted with 39 participants (34 women and 5 men) who had received test results from BRCA1/2 testing. Themes emerging from qualitat...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.2006.00720.x

    authors: d'Agincourt-Canning L

    更新日期:2006-12-01 00:00:00

  • A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.

    abstract::Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases. Toward saturated discovery of the mutational basis of the disorder, we carefully explored ou...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.13878

    authors: Delvallée C,Nicaise S,Antin M,Leuvrey AS,Nourisson E,Leitch CC,Kellaris G,Stoetzel C,Geoffroy V,Scheidecker S,Keren B,Depienne C,Klar J,Dahl N,Deleuze JF,Génin E,Redon R,Demurger F,Devriendt K,Mathieu-Dramard M,Po

    更新日期:2021-02-01 00:00:00

  • Partial trisomy 17p detected by spectral karyotyping.

    abstract::We report the case of a child with partial trisomy of the short arm of chromosome 17, which was characterized by 24-color spectral karyotyping (SKY) and other fluorescence in situ hybridization (FISH) methods. The child had phenotypic features previously associated with trisomy 17p, including facial characteristics, d...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1034/j.1399-0004.1999.550513.x

    authors: Morelli SH,Deubler DA,Brothman LJ,Carey JC,Brothman AR

    更新日期:1999-05-01 00:00:00

  • Normal growth in Angelman syndrome due to paternal UPD.

    abstract::We describe 2 patients with Angelman syndrome (AS) due to paternal uniparental disomy (UPD). One patient is a female aged 30 years and the other a male aged 4 1/2 years. Both have the characteristic wide mouth and big chin, moderate mental retardation, virtually no speech but some 30 words of sign language and a happy...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1998.tb02682.x

    authors: Smith A,Robson L,Buchholz B

    更新日期:1998-03-01 00:00:00

  • Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.

    abstract::Noonan syndrome (NS) is a congenital abnormality that affects multiple parts of the body. Approximately 50% of cases are caused by mutations in the PTPN11 gene. NS shares many clinical features with a group of developmental disorders including Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Recently, KRAS...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.2007.00839.x

    authors: Lee ST,Ki CS,Lee HJ

    更新日期:2007-08-01 00:00:00

  • Genetic factors in congenital heart malformation.

    abstract::Congenital heart disease is the commonest malformation in humans and contributes greatly to the burden of disease in infancy. Increasingly, developmental origins are also implicated in heart disease in adults. Significant advances have been made over the past decade in elucidating morphogenetic events of heart formati...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1399-0004.2008.01009.x

    authors: Andelfinger G

    更新日期:2008-06-01 00:00:00

  • Genotyping of the polymorphic N-acetyltransferase (NAT2) and loss of heterozygosity in bladder cancer patients.

    abstract::Acetylation is one of the major routes in metabolism and detoxification of a large number of drugs, chemicals and carcinogens. Slow acetylators are said to be more susceptible to developing bladder cancer and because of investigations about tumor risk based on phenotyping procedures, it was our aim to study the distri...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1998.tb02753.x

    authors: Schnakenberg E,Ehlers C,Feyerabend W,Werdin R,Hübotter R,Dreikorn K,Schloot W

    更新日期:1998-05-01 00:00:00

  • WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).

    abstract::Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.13147

    authors: Guazzarotti L,Tadini G,Mancini GE,Sani I,Pisanelli S,Galderisi F,D'Auria E,Secondi R,Bottero A,Zuccotti GV

    更新日期:2018-03-01 00:00:00

  • X-linked retinoschisis is closely linked to DXS41 and DXS16 but not DXS85.

    abstract::A linkage study was carried out in nine families with 24 males affected by X-linked recessive retinoschisis (RS), using three polymorphic DNA probes from the distal segment of Xp. Close linkage of the disease locus with markers DXS41 (probe p99-6) and DXS16 (pXUT23) was found, confirming the location of the RS gene on...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1987.tb03353.x

    authors: Alitalo T,Kärnä J,Forsius H,de la Chapelle A

    更新日期:1987-09-01 00:00:00

  • Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.

    abstract::Lynch syndrome is caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 or PMS2. The novel MSH2 c.[2635-3T>C; 2635-5C>T] mutation was identified in 4 Lynch families, cosegregating with the disease. This mutation, located in intron 15, was predicted to alter the correct mRNA processing by in silico...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.2009.01346.x

    authors: Menéndez M,Castellví-Bel S,Pineda M,de Cid R,Muñoz J,González S,Teulé A,Balaguer F,Ramón y Cajal T,Reñé JM,Blanco I,Castells A,Capellà G

    更新日期:2010-08-01 00:00:00

  • Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer.

    abstract::Few studies have investigated the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in patients with colorectal cancer (CRC), and these have shown marked geographic variations. The aim of this study was to estimate the frequency of HNPCC in a cohort of Uruguayan CRC patients. We included all patients ope...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.2005.00458.x

    authors: Sarroca C,Valle AD,Fresco R,Renkonen E,Peltömaki P,Lynch H

    更新日期:2005-07-01 00:00:00

  • Two newborns with chromosome 4 imbalances: deletion 4q33-->q35 and ring r(4)(pterq35.2-qter).

    abstract::Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis defined the breakpoints respectively at bands 4q33-->q35 proximal to the telomere, and 4pter and 4q35.2 qter. Moreover in both cases rearranged chromosomes maintained telomeric sequences. The first patient sh...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:

    authors: Calabrese G,Giannotti A,Mingarelli R,Di Gilio MC,Piemontese MR,Palka G

    更新日期:1997-04-01 00:00:00

  • Cytogenetics of recurrent abortions.

    abstract::G-banded chromosome complements were analysed from both partners of 150 couples who had had two or more spontaneous abortions. Two women and four men were found to be balanced translocation carriers, as follows: 46,XX,t(2;10), 46,XX,t(6;11), 46,XY,t(6;10), 45,XY,t(13;14), 45,XY,t(13;14), 45,XY,t(14;21). Another woman ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1983.tb01879.x

    authors: Lyberatou-Moraitou E,Grigori-Kostaraki P,Retzepopoulou Z,Kosmaidou-Aravidou Z

    更新日期:1983-04-01 00:00:00

  • Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

    abstract::Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.13532

    authors: Angius A,Uva P,Oppo M,Buers I,Persico I,Onano S,Cuccuru G,Van Allen MI,Hulait G,Aubertin G,Muntoni F,Fry AE,Annerén G,Stattin EL,Palomares-Bralo M,Santos-Simarro F,Cucca F,Crisponi G,Rutsch F,Crisponi L

    更新日期:2019-05-01 00:00:00

  • Catechol-o-methyltransferase activity in erythrocytes in Down's syndrome: family studies.

    abstract::Catechol-O-methyltransferase (COMT) activity in erythrocytes was measured in six children with Down's syndrome and in their parents to determine if COMT activity is related to a gene on chromosome 21. A gene dosage effect was a possible explanation of the COMT value in three of the children but not in the other three....

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1982.tb01405.x

    authors: Gustavson KH,Flodérus Y,Jagell S,Wetterberg L,Ross SB

    更新日期:1982-07-01 00:00:00

  • A population-based study of hereditary non-polyposis colorectal cancer: evidence of pathologic and genetic heterogeneity.

    abstract::Hereditary non-polyposis colorectal cancer (HNPCC) may be the result of Lynch syndrome (LS) caused by mutations in mismatch repair (MMR) genes, a syndrome of unknown etiology called familial colorectal cancer type-X (FCCTX), or familial serrated neoplasia associated with the colorectal cancer (CRC) somatic BRAF mutati...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/cge.12080

    authors: Warden G,Harnett D,Green J,Wish T,Woods MO,Green R,Dicks E,Rahman P,Zhai G,Parfrey P

    更新日期:2013-12-01 00:00:00

  • The prevalence of chromosome abnormalities among mentally retarded persons in a geographically delimited area of Denmark.

    abstract::A cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in ...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1982.tb01441.x

    authors: Rasmussen K,Nielsen J,Dahl G

    更新日期:1982-11-01 00:00:00

  • Silver-Russell syndrome due to maternal uniparental disomy 7 and a familial reciprocal translocation t(7;13).

    abstract::Silver-Russell syndrome (SRS) is a genetically heterogeneous disorder characterized by intrauterine and postnatal growth retardation, typical facial features and a spectrum of additional features including body and limb asymmetry and clinodactyly. Maternal uniparental disomy for chromosome 7 (upd(7)mat) was shown to o...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.2011.01792.x

    authors: Behnecke A,Hinderhofer K,Jauch A,Janssen JW,Moog U

    更新日期:2012-11-01 00:00:00

  • Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and parental history of myocardial infarction.

    abstract::One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible association between premature parental MI (before age 61 years in mothers and/or before age 56 years in fathers) and an insertion/deletion (I/D) polymorphism i...

    journal_title:Clinical genetics

    pub_type: 杂志文章

    doi:10.1111/j.1399-0004.1993.tb03904.x

    authors: Bøhn M,Berge KE,Bakken A,Erikssen J,Berg K

    更新日期:1993-12-01 00:00:00

  • Personalized ophthalmology.

    abstract::Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replace...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/cge.12389

    authors: Porter LF,Black GC

    更新日期:2014-07-01 00:00:00

  • How often has Lp(a) evolved?

    abstract::The lipoprotein Lp(a) is associated with increased risk of atherosclerosis and myocardial infarction in humans. Lp(a) is mostly confined to primate species, due to the limited phylogenetic distribution of its distinguishing protein component, apolipoprotein(a) which is a close homolog of plasminogen. The known propert...

    journal_title:Clinical genetics

    pub_type: 杂志文章,评审

    doi:10.1111/j.1399-0004.1996.tb03281.x

    authors: Lawn RM

    更新日期:1996-04-01 00:00:00