Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III.

abstract：:A deletion of 7q21.2-q22.1 has been found in a patient with split foot and developmental retardation. Molecular analysis using polymerase chain reaction (PCR) showed deletion of three microsatellite markers, D7S527, D7S479 and D7S554, in the patient's paternal chromosome. These results pinpoint the critical region for...

journal_title：Clinical genetics

authors： Marinoni JC,Stevenson RE,Evans JP,Geshuri D,Phelan MC,Schwartz CE

更新日期：1995-02-01 00:00:00

abstract：:Arrhythmogenic cardiomyopathy (ACM) is a familial cardiomyopathy featured by fibrofatty replacement of cardiomyocytes. Responsible genetic factors are not discernible in approximately one-third of ACM probands. To investigate this further, we performed whole genome sequencing in 14 mutation-negative ACM probands who u...

journal_title：Clinical genetics

authors： Rao M,Guo G,Li M,Chen S,Chen K,Chen X,Song J,Hu S

更新日期：2019-12-01 00:00:00

abstract：:We have detected a novel mutation in the adrenoleukodystrophy (ALD) gene in skin fibroblasts in primary culture derived from a patient suffering from the adrenocortical insufficiency-only-phenotype of ALD. This nonsense mutation (C2400T/Q672X) is the only mutation reported to date affecting exon 10. It leads to a tran...

journal_title：Clinical genetics

authors： Holzinger A,Maier E,Stöckler-Ipsiroglu S,Braun A,Roscher AA

更新日期：1998-06-01 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：:We describe a 2-year-old female patient who had megaloblastic anaemia caused by selective vitamin B12 malabsorption (Imerslund-Grasbeck syndrome) and del(21)(q22). To our knowledge, this is the first observation of Imerslund-Grasbeck syndrome associated with del(21)(q22) in the literature. ...

journal_title：Clinical genetics

authors： Celep F,Karagüzel A,Aynaci FM,Erduran E

更新日期：1996-10-01 00:00:00

abstract：:Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical g...

journal_title：Clinical genetics

authors： Rijken JA,Niemeijer ND,Jonker MA,Eijkelenkamp K,Jansen JC,van Berkel A,Timmers HJLM,Kunst HPM,Bisschop PHLT,Kerstens MN,Dreijerink KMA,van Dooren MF,van der Horst-Schrivers ANA,Hes FJ,Leemans CR,Corssmit EPM,Hensen EF

更新日期：2018-01-01 00:00:00

abstract：:In the present study the kindred with Marner's cataract (CAM), which now comprises nine generations, was examined for linkage with 14 marker loci. We found strong evidence for linkage to haptoglobin, zmax = 8.33 at thetamax = 0.05 for males and thetamax = 0.04 for females. ...

journal_title：Clinical genetics

authors： Eiberg H,Marner E,Rosenberg T,Mohr J

更新日期：1988-10-01 00:00:00

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

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

abstract：:In a study of 95 presumably healthy, 40-42-year old males from Northen Sweden, the Lp(a) phenotype distribution differed between those who had, and those who did not have one or more close relatives (parent or sib) with coronary heart disease. In the former group, 60% of the males were Lp(a+), as opposed to 28% in the...

journal_title：Clinical genetics

authors： Berg K,Dahlén G,Børresen AL

更新日期：1979-11-01 00:00:00

abstract：:Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder characterized by postnatal growth deficiency, skeletal abnormalities, dysmorphic features and cognitive deficit. Mutations in two genes, CREBBP and EP300, encoding two homologous transcriptional co-activators, have been identified in ˜55...

journal_title：Clinical genetics

authors： Negri G,Milani D,Colapietro P,Forzano F,Della Monica M,Rusconi D,Consonni L,Caffi LG,Finelli P,Scarano G,Magnani C,Selicorni A,Spena S,Larizza L,Gervasini C

更新日期：2015-02-01 00:00:00

abstract：:Hunter syndrome or mucopolysaccharidosis type II (MPSII) is caused by pathogenic variants in the IDS gene. This is the first study that examines the mutational spectrum in 25 unrelated Mexican MPSII families. The responsible genotype was identified in 96% of the families (24/25) with 10 novel pathogenic variants: c.13...

journal_title：Clinical genetics

authors： Alcántara-Ortigoza MA,García-de Teresa B,González-Del Angel A,Berumen J,Guardado-Estrada M,Fernández-Hernández L,Navarrete-Martínez JI,Maza-Morales M,Rius-Domínguez R

更新日期：2016-05-01 00:00:00

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

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

更新日期：1987-09-01 00:00:00

abstract：:We report studies on two patients (a mother and her daughter) presenting with a Charcot-Marie-Tooth type 1 (CMT1) phenotype: low nerve conduction velocities of 13-15 m/s and an early onset at the age of walking. DNA analysis of the gene coding for the major peripheral myelin protein PO showed a new point mutation in e...

journal_title：Clinical genetics

authors： Blanquet-Grossard F,Pham-Dinh D,Dautigny A,Latour P,Bonnebouche C,Corbillon E,Chazot G,Vandenberghe A

更新日期：1995-12-01 00:00:00

abstract：:An unusual variant of chromosome 6 was shown to be a dic(6) by use of the chromosome specific alphoid probe, p308. The use of biotinylated repeat probes provides a rapid procedure for the resolution of some cytogenetic abnormalities. ...

journal_title：Clinical genetics

authors： Callen DF,Eyre HJ,Ringenbergs ML

更新日期：1990-02-01 00:00:00

abstract：:An extra G-positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G-staining. ...

journal_title：Clinical genetics

authors： Hoo JJ

更新日期：1992-03-01 00:00:00

abstract：:We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced l...

journal_title：Clinical genetics

authors： Schmidt H,Rudolph G,Hergersberg M,Schneider K,Moradi S,Meitinger T

更新日期：2001-02-01 00:00:00

abstract：:Primary immune deficiencies are usually attributed to genetic defects and, therefore, frequently referred to as inborn errors of immunity (IEI). We subjected the genomic DNA of 333 patients with clinical signs of IEI to next generation sequencing (NGS) analysis of 344 immunity-related genes and, in some instances, add...

journal_title：Clinical genetics

authors： Suspitsin EN,Guseva MN,Kostik MM,Sokolenko AP,Skripchenko NV,Levina AS,Goleva OV,Dubko MF,Tumakova AV,Makhova MA,Lyazina LV,Bizin IV,Sokolova NE,Gabrusskaya TV,Ditkovskaya LV,Kozlova OP,Vahliarskaya SS,Kondratenko IV,

更新日期：2020-09-01 00:00:00

abstract：:Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the lite...

journal_title：Clinical genetics

authors： Dworschak GC,Crétolle C,Hilger A,Engels H,Korsch E,Reutter H,Ludwig M

更新日期：2017-05-01 00:00:00

abstract：:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...

journal_title：Clinical genetics

authors： Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

更新日期：1993-06-01 00:00:00

abstract：:A study of the family of a patient who had an SLE-like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60--70% of "normal" C4 level prior to the onset of disease. Thus the extremely low C4 level during her disease may result from a ...

journal_title：Clinical genetics

authors： Cream JJ,Olaisen B,Teisberg P,Soler AV,Thompson RA

更新日期：1979-11-01 00:00:00

abstract：:Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying...

journal_title：Clinical genetics

authors： Lee HJ,Jung J,Shin JW,Song MH,Kim SH,Lee JH,Lee KA,Shin S,Kim UK,Bok J,Lee KY,Choi JY,Park HJ

更新日期：2014-09-01 00:00:00

abstract：:Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge mea...

journal_title：Clinical genetics

authors： Fitzgerald-Butt SM,Bodine A,Fry KM,Ash J,Zaidi AN,Garg V,Gerhardt CA,McBride KL

更新日期：2016-02-01 00:00:00

abstract：:A de novo interstitial duplication of the 6q11-q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dysmorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to ...

journal_title：Clinical genetics

authors： Giardino D,Rizzi N,Briscioli V,Bettio D

更新日期：1994-11-01 00:00:00

abstract：:A large 15p + chromosome with a whole heterochromatic short arm has been studied by means of different banding techniques in six of nine individuals of a family; a possible Y/15 translocation has been excluded. Furthermore a heteromorphic pair 9 has been observed in seven family members, representing a "possible" smal...

journal_title：Clinical genetics

authors： Werner W,Herrmann FH

更新日期：1984-09-01 00:00:00

abstract：:The responsibility to provide accessible, useful genetic counseling to individuals from many cultures and ethnicities arises from the increasing ethnocultural diversity of the populations served, coupled with the ethical goal of providing equal access and quality of services for all individuals. The multicultural educ...

journal_title：Clinical genetics

authors： Weil J

更新日期：2001-03-01 00:00:00

abstract：:A family ascertained in the United States displays significant evidence of linkage to 17q25.3 (maximum two-point LOD score 6.32). The non-syndromic autosomal-dominant hearing-loss loci DFNA20 and DFNA26 map to this region. The 3-unit support interval and haplotype for this USA kindred falls within the interval for DFN...

journal_title：Clinical genetics

authors： DeWan AT,Parrado AR,Leal SM

更新日期：2003-01-01 00:00:00

abstract：:In this paper we report a 22-year-old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia. This "segmental" type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in...

journal_title：Clinical genetics

authors： Fryns JP,van den Berghe H

更新日期：1986-10-01 00:00:00

abstract：:Chromosomal microarray analysis (CMA) is standard of care, first-tier clinical testing for detection of genomic copy number variation among patients with developmental disabilities. Although diagnostic yield is higher than traditional cytogenetic testing, management impact has not been well studied. We surveyed geneti...

journal_title：Clinical genetics

authors： Riggs ER,Wain KE,Riethmaier D,Smith-Packard B,Faucett WA,Hoppman N,Thorland EC,Patel VC,Miller DT

更新日期：2014-02-01 00:00:00

abstract：:Two of three unrelated children with de novo congenital complex chromosome rearrangements (CCR) with more than four chromosome breaks had cleft lip and palate as one of several congenital anomalies. In patient 1, unilateral complete cleft of the primary and secondary palates accompanied severe ectrodactyly, bilateral ...

journal_title：Clinical genetics

authors： Kousseff BG,Papenhausen P,Neu RL,Essig YP,Saraceno CA

更新日期：1992-09-01 00:00:00

abstract：:Mutations in IRF6 cause Van der Woude syndrome (VWS), one of the most common syndromes associated with cleft lip (CL) with or without cleft palate (CP). The presence of pits on the lower lip of patients is the most characteristic feature of the syndrome. We have identified three novel and seven previously reported IRF...

journal_title：Clinical genetics

authors： Malik S,Kakar N,Hasnain S,Ahmad J,Wilcox ER,Naz S

更新日期：2010-09-01 00:00:00