Growth curves for height in Noonan syndrome.

abstract：:The codominant expression of three HLA haplotypes was found in a healthy 21-year-old Black male, whose prometaphase karyotype was normal by light microscopy. He was the sibling of an antenatally diagnosed female fetus with a partial duplication of 6p. The duplication arose from a complex presumably balanced maternal c...

journal_title：Clinical genetics

authors： Morton CC,Brown JA,Kirsch IR,Evans GA,Mohanakumar T,Nance WE

更新日期：1986-01-01 00:00:00

abstract：:The contribution of fetal and maternal genes to the variation in birth weight was estimated in a sample of 5,625 grandchildren of monozygotic and dizygotic twins. Fetal and maternal genetic effects were separated by comparing the covariance structure for offspring of daughters of twins with that for offspring of sons ...

journal_title：Clinical genetics

authors： Magnus P

更新日期：1984-10-01 00:00:00

abstract：:We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease. However, one patient retained his speech and mental abilities despite his pronounced motor regres...

journal_title：Clinical genetics

authors： Michelakakis H,Dimitriou E,Bartsocas C,Skardoutsou A,Giouroukos S

更新日期：1990-01-01 00:00:00

abstract：:A 27-year-old male with hypomelanosis of Ito (HI) is reported. One of his two children had a postaxial ray defect of one leg but neither had cutaneous features of HI. Somatic mosaicism for a gene defect lethal to ectodermal derivatives offers the best explanation for HI in males, with consequent negligible recurrence ...

journal_title：Clinical genetics

authors： Moss C,Burn J

更新日期：1988-08-01 00:00:00

abstract：:Chromosome displays and listings are presented showing loci whose position is known in both man and mouse, in similar manner to our previous report (Dalton et al. 1981). There is now evidence for at least 27 conserved autosomal segments with two or more loci in the two species. The human and mouse chromosome maps show...

journal_title：Clinical genetics

authors： Buckle VJ,Edwards JH,Evans EP,Jonasson JA,Lyon MF,Peters J,Searle AG,Wedd NS

更新日期：1984-07-01 00:00:00

abstract：:The aim of this study was to search for SLC40A1 mutations in iron overloaded patients, which tested negative for HFE mutations and other iron-related genes. After a careful differential diagnosis, we selected 56 patients with unexplained iron overload whose phenotype could suggest the ferroportin disease. Iron overloa...

journal_title：Clinical genetics

authors： Pelucchi S,Mariani R,Salvioni A,Bonfadini S,Riva A,Bertola F,Trombini P,Piperno A

更新日期：2008-02-01 00:00:00

abstract：:An extremely rare pellagra-like condition has been described, which was partially responsive to niacin and associated with a multisystem involvement. The condition was proposed to represent a novel autosomal recessive entity but the underlying mutation remained unknown for almost three decades. The objective of this s...

journal_title：Clinical genetics

authors： Hijazi H,Salih MA,Hamad MH,Hassan HH,Salih SB,Mohamed KA,Mukhtar MM,Karrar ZA,Ansari S,Ibrahim N,Alkuraya FS

更新日期：2015-01-01 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：:We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most fre...

journal_title：Clinical genetics

authors： Bayat A,Yasmeen S,Lund A,Nielsen JB,Møller LB

更新日期：2016-09-01 00:00:00

abstract：:In a study of xanthomatosis in the county of Ostfold, Norway (approximately 220,000 inhabitants), it was found that 20% (37 out of 185) of the probands belonges to seven large kindreds where xanthomatosis and hyper-beta-lipoproteinaemia segregated. Almost complete ascertainment (99%) of living subjects in the sibships...

journal_title：Clinical genetics

authors： Heiberg A

更新日期：1976-01-01 00:00:00

abstract：:Forty-two children out of 20 sibships with autosomal recessive polycystic kidney disease were observed pro- and retrospectively over a mean period of 3.7 years in a long-term study on cystic kidney diseases in children. The intra- and interfamilial variability in terms of age at diagnosis, administration of antihypert...

journal_title：Clinical genetics

authors： Deget F,Rudnik-Schöneborn S,Zerres K

更新日期：1995-05-01 00:00:00

abstract：:A family is presented with hyperexplexia, a rare autosomal dominant neurological disorder. Affected individuals manifest flexor hypertonia and hypokinesia during infancy. Later and throughout life, the condition is characterized by exaggerated involuntary myoclonic startle reactions, which on occasion result in fallin...

journal_title：Clinical genetics

authors： Morley DJ,Weaver DD,Garg BP,Markand O

更新日期：1982-06-01 00:00:00

abstract：:We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype-phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The most common initial phenotype was Miyoshi myopathy in 50 patient...

journal_title：Clinical genetics

authors： Park HJ,Hong YB,Hong JM,Yun UK,Kim SW,Shin HY,Kim SM,Choi YC

更新日期：2020-11-20 00:00:00

abstract：:Details are presented of a boy with partial lipodystrophy. Only one male case has previously been described with this condition. The spectrum of partial lipodystrophy syndromes and the inheritance thereof are discussed in relation to our case. ...

journal_title：Clinical genetics

authors： Reardon W,Temple IK,Mackinnon H,Leonard JV,Baraitser M

更新日期：1990-11-01 00:00:00

abstract：:A number of studies have reported on possible relationships between a hypervariable sequence near the 5' end of the insulin gene and some common diseases. Control populations within these studies appear to disobey the Hardy-Weinberg equilibrium. In this study we have ascertained the allele frequencies in 181 random in...

journal_title：Clinical genetics

authors： Hubbard AL,Clayton JF

更新日期：1986-10-01 00:00:00

abstract：:Five sibs with related parents are presented. All the sibs have short atrioventricular conduction time (P-R interval). The short P-R interval is probably an inherited feature in the family. ...

journal_title：Clinical genetics

authors： Möller P

更新日期：1976-08-01 00:00:00

abstract：:Inherited bone marrow failure syndromes (IBMFS) are caused by mutations in genes involved in genomic stability. Although they may be recognized by the association of typical clinical features, variable penetrance and expressivity are common, and clinical diagnosis is often challenging. DNAJC21, which is involved in ri...

journal_title：Clinical genetics

authors： D'Amours G,Lopes F,Gauthier J,Saillour V,Nassif C,Wynn R,Alos N,Leblanc T,Capri Y,Nizard S,Lemyre E,Michaud JL,Pelletier VA,Pastore YD,Soucy JF

更新日期：2018-08-01 00:00:00

abstract：:The incidence of pancreatic ductal adenocarcinoma (PDAC) is steadily increasing and the annual death-to-incidence ratio approaches one. This is a figure that has not changed for several decades. Surgery remains the only chance of cure; however, only less than 20% of patients are amenable to operative resection. Despit...

journal_title：Clinical genetics

authors： Graham JS,Jamieson NB,Rulach R,Grimmond SM,Chang DK,Biankin AV

更新日期：2015-09-01 00:00:00

abstract：:A unique substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen was identified in a proband with Ehlers-Danlos syndrome type IV. The substitution was due to the transition of G 3302 to A in alpha 1(III) cDNA which is encoded by exon 46 of COL3A1. It resulted in a severe deficien...

journal_title：Clinical genetics

authors： McGrory J,Weksberg R,Thorner P,Cole WG

更新日期：1996-12-01 00:00:00

abstract：:We have studied the role of three polymorphic genes of the renin-angiotensin system (RAS) as independent risk factors for myocardial infarction (MI) and their correlation with three of the major coronary risk factors: serum cholesterol (CH), hypertension (HT) and smoking (SM). A population of 392 men was genotyped for...

journal_title：Clinical genetics

authors： Fernández-Arcás N,Dieguez-Lucena JL,Muñoz-Morán E,Ruiz-Galdón M,Espinosa-Caliani S,Aranda-Lara P,Rius-Diaz F,Gaitán-Arroyo MJ,De Teresa-Galván E,Reyes-Engel A

更新日期：2001-07-01 00:00:00

abstract：:A case of Fanconi anemia with terminal acute leukemia is reported. Clones with chromosome abnormalities were observed in bone marrow cells. The patterns of marker chromosome distribution in these clones suggests the occurrence of a somatic segregation mechanism. ...

journal_title：Clinical genetics

authors： Berger R,Bussel A,Schenmetzler C

更新日期：1977-06-01 00:00:00

abstract：:Mitotic chromosome analyses performed on 820 infertile men revealed 60 (7.3%) men with some kind of chromosomal abnormality. Sex chromosomal abnormalities were detected in 28 (3.4%) and autosomal translocations in 9 (1.0%). Pericentric inversions of chromosome 9, with possible adverse effect on reproduction, was found...

journal_title：Clinical genetics

authors： Mićić M,Mićić S,Diklić V

更新日期：1984-01-01 00:00:00

abstract：:With the use of more stringent diagnostic criteria, it has recently been shown that some large pedigrees of Alport's and non-Alport's hereditary nephritis fit sex-linked dominant inheritance (O'Neill et al. 1978). We have used similar diagnostic criteria and have studied a number of Michigan pedigrees in order to see ...

journal_title：Clinical genetics

authors： Evans SH,Erickson RP,Kelsch R,Peirce JC

更新日期：1980-04-01 00:00:00

abstract：:Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, ...

journal_title：Clinical genetics

authors： Beyens A,Boel A,Symoens S,Callewaert B

更新日期：2021-01-01 00:00:00

abstract：:A female with clinical features of familial articular hypermobility syndrome (FAHS) and her family were studied. The subject showed generalized hypermobility, except for a painful shoulder which presented functional limitation with a diagnosis of painful shoulder syndrome. Biochemical studies demonstrated that collage...

journal_title：Clinical genetics

authors： García-Cruz D,Cano-Colín S,Sánchez-Corona J,Gallegos MP,Chimal-Monroy J,Díaz-de-León L

更新日期：1998-02-01 00:00:00

abstract：:Chromosomal analyses of cultured lymphocytes from nine patients with familial multiple endocrine adenomatosis (MEA) syndrome type I from six families and two patients - father and daughter - with familial MEA syndrome type II showed an increased frequency of chromosomal breakage. The frequency of sister chromatid exch...

journal_title：Clinical genetics

authors： Gustavson KH,Jansson R,Oberg K

更新日期：1983-02-01 00:00:00

abstract：:The presence of Y chromosome sequences in Turner syndrome (TS) patients may predispose them to gonadoblastoma formation with an estimated risk of 15-25%. The aim of this study was to determine the presence and the incidence of cryptic Y chromosome material in the genome of TS patients. The methodology involved a combi...

journal_title：Clinical genetics

authors： Patsalis PC,Sismani C,Hadjimarcou MI,Kitsiou-Tzeli S,Tzezou A,Hadjiathanasiou CG,Velissariou V,Lymberatou E,Moschonas NK,Skordis N

更新日期：1998-04-01 00:00:00

abstract：:The reliable evaluation of chromosomal mosaics is still considered to be difficult in clinical diagnosis if aberrant metaphases are only present at low frequencies. Classical cytogenetic findings cannot significantly exclude low mosaic levels, obviously, because of the relatively low number of analyzed metaphases. To ...

journal_title：Clinical genetics

authors： Schliephacke M,Maier CI,Majlinger G,Tomiuk J,Leipoldt M,Kaiser P

更新日期：1996-08-01 00:00:00

abstract：:Molecular testing of patients with autosomal dominant hypercholesterolemia (ADH) fails to detect a causal functional mutation in 15.25% of subjects. We studied an ADH pedigree in which known ADH-causing genes (LDLR, APOB and PCSK9) were excluded. Genome-wide analysis on 15 family members detected significant associati...

journal_title：Clinical genetics

authors： Cenarro A,García-Otín AL,Tejedor MT,Solanas M,Jarauta E,Junquera C,Ros E,Mozas P,Puzo J,Pocoví M,Civeira F

更新日期：2011-05-01 00:00:00

abstract：:During an investigation of cousin marriages in Iceland, five brothers and sisters were found to be homozygous for the "silent" allele of plasma cholinesterase. Clinical information on two family members is presented and discussed, and the possibility of the presence of a "nearly silent" plasma esterase allele, in one ...

journal_title：Clinical genetics

authors： Arnason A,Jensson O,Gudmundsson S

更新日期：1975-05-01 00:00:00