Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C).

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

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

更新日期：2005-07-01 00:00:00

abstract：:Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often quadrupedal gait. The few cases reported in the medical literature are all...

journal_title：Clinical genetics

authors： Richmond CM,Leventer R,Ryan MM,Delatycki MB

更新日期：2020-03-01 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：: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：:The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses with microsatellites surrounding the previously identified loci detect...

journal_title：Clinical genetics

authors： Masmoudi S,Charfedine I,Rebeh IB,Rebai A,Tlili A,Ghorbel AM,Belguith H,Petit C,Drira M,Ayadi H

更新日期：2004-10-01 00:00:00

abstract：:The 15q13.3 microdeletion syndrome (OMIM #612001) is characterized by a wide range of phenotypic features, including intellectual disability, seizures, autism, and psychiatric conditions. This deletion is inherited in approximately 75% of cases and has been found in mildly affected and normal parents, consistent with ...

journal_title：Clinical genetics

authors： Hoppman-Chaney N,Wain K,Seger PR,Superneau DW,Hodge JC

更新日期：2013-04-01 00:00:00

abstract：:Psoriasis is a multifactorial skin disease characterised by epidermal abnormalities and infiltration by lymphocytes and polymorphonuclear leukocytes (PMN). Skin-derived antileukoproteinase (SKALP), also known as elafin, is a potent inhibitor of human leukocyte elastase and proteinase 3, two PMN-derived proteinases imp...

journal_title：Clinical genetics

authors： Kuijpers AL,Pfundt R,Zeeuwen PL,Molhuizen HO,Mariman EC,van de Kerkhof PC,Schalkwijk J

更新日期：1998-07-01 00:00:00

abstract：:Two unrelated children with partial deletion of the long arm of a chromosome no. 5 are reported. The boy presented with severe hypotonia, developmental delay, and a few minor defects of the face including frontal bossing, antimongoloid slant of the palpebral fissures, depressed nasal bridge and bilateral epicanthal fo...

journal_title：Clinical genetics

authors： Silengo MC,Luzzatti L,Centerwall WR,Costello JM,Parslow M

更新日期：1981-03-01 00:00:00

abstract：:A seven-generation pedigree of apparent X-linked, nonspecific mental retardation is reported. There are 19 known affected males who appear to have received the gene through normal mothers. Retardation, lack of fine motor coordination, hyperactivity and a speech defect are the characteristics of affected individuals st...

journal_title：Clinical genetics

authors： Yarbrough KM,Howard-Peebles PN

更新日期：1976-02-01 00:00:00

abstract：:Metaphyseal anadysplasia (MANDP) is a rare autosomal recessive form of skeletal dysplasia characterized by normal length at birth and transitory bowing of the legs. Although several families with MANDP have been reported, homozygous mutations in the matrix metalloproteinase type 9 (MMP9) gene have been described in on...

journal_title：Clinical genetics

authors： Sharony R,Borochowitz Z,Cohen L,Shtorch-Asor A,Rosenfeld R,Modai S,Reinstein E

更新日期：2017-12-01 00:00:00

abstract：:Variable constitutional mosaicism, mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47, XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a lymphoblastoid cell line and in cultured skin fibroblasts from a mentally retarded patient with neurofibromatosis. Both the ring chromosome and t...

journal_title：Clinical genetics

authors： Tommerup N,Warburg M,Gieselmann V,Hansen BR,Koch J,Petersen GB

更新日期：1992-10-01 00:00:00

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

authors： Vogel F

更新日期：1984-05-01 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：:An allele association study of 19 polymorphisms in surfactant proteins SP-A1, SP-A2, SP-B, and SP-D genes in acute respiratory distress syndrome (ARDS) was carried out. Trend-test analysis revealed differences (p < 0.05) in the frequency of alleles for some of the microsatellite markers flanking SP-B, and for one poly...

journal_title：Clinical genetics

authors： Lin Z,Pearson C,Chinchilli V,Pietschmann SM,Luo J,Pison U,Floros J

更新日期：2000-09-01 00:00:00

abstract：:A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other lo...

journal_title：Clinical genetics

authors： Butler LJ,Palmer AV,Spencer T,Tabios-Broadway R,Wall WJ

更新日期：1987-04-01 00:00:00

abstract：BACKGROUND:Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation. METHODS:Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared...

journal_title：Clinical genetics

authors： Burgel PR,Fajac I,Hubert D,Grenet D,Stremler N,Roussey M,Siret D,Languepin J,Mely L,Fanton A,Labbé A,Domblides P,Vic P,Dagorne M,Reynaud-Gaubert M,Counil F,Varaigne F,Bienvenu T,Bellis G,Dusser D

更新日期：2010-04-01 00:00:00

abstract：:Congenital heart disease (CHD) is one of most prevalent birth defects in the world. However, the underlying molecular mechanism(s) have not been fully understood. Here we report that increased CHD susceptibility is associated with genetic polymorphisms for de novo nucleotide biosynthesis in northern Chinese population...

journal_title：Clinical genetics

authors： Jiang YC,Kuang LL,Sun SN,Duan WY,Qiao B,Wang HY

更新日期：2017-05-01 00:00:00

abstract：:Aniridia is a severe, congenital ocular malformation inherited in an autosomal-dominant fashion with high penetrance and variable expression. Eye morphogenesis in humans involves a molecular genetic cascade in which a number of developmental genes interact in a highly organized process during the embryonic period to p...

journal_title：Clinical genetics

authors： Kokotas H,Petersen MB

更新日期：2010-05-01 00:00:00

abstract：:Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals have osteoclast hyperactivity and increased bone resorption as measur...

journal_title：Clinical genetics

authors： Stevenson DA,Schwarz EL,Carey JC,Viskochil DH,Hanson H,Bauer S,Weng HY,Greene T,Reinker K,Swensen J,Chan RJ,Yang FC,Senbanjo L,Yang Z,Mao R,Pasquali M

更新日期：2011-12-01 00:00:00

abstract：:Congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV is a rare, autosomal recessive neurologic disorder, characterized by absence of reaction to painful stimuli, mental retardation, self- mutilating behavior, anhidrosis, and recurrent episodes of hyperthermia. ...

journal_title：Clinical genetics

authors： Suriu C,Khayat M,Weiler M,Kfir N,Cohen C,Zinger A,Aslanidis C,Schmitz G,Falik-Zaccai TC

更新日期：2009-03-01 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 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：:Congenital long QT syndrome (LQTS) is an inherited potentially fatal arrhythmogenic disorder that is characterized by prolonged corrected QT (QTc) interval. Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases. However, 10 other genes are now known to be implicated in LQTS. In this ...

journal_title：Clinical genetics

authors： Shinwari ZM,Al-Hazzani A,Dzimiri N,Tulbah S,Mallawi Y,Al-Fayyadh M,Al-Hassnan ZN

更新日期：2013-04-01 00:00:00

abstract：:X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism...

journal_title：Clinical genetics

authors： Gustavson KH,Holmgren G,Blomquist HK,Mikkelsen M,Nordenson I,Poulsen H,Tommerup N

更新日期：1981-02-01 00:00:00

abstract：:Myotonic dystrophy (DM) is a multisystemic disease caused by the expansion of a CTG repeat, located in the 3'-untranslated region of the DMPK gene. The number of CTG repeats broadly correlates with the overall severity of the disease. However, correlations between CTG repeat number and presence/absence or severity of ...

journal_title：Clinical genetics

authors： Marchini C,Lonigro R,Verriello L,Pellizzari L,Bergonzi P,Damante G

更新日期：2000-01-01 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：:Twenty CF chromosomes from ten patients with mild adult form of cystic fibrosis were tested for delta F508. This mutation was found to be significantly less frequent than in the severe form of the disease. ...

journal_title：Clinical genetics

authors： Simon-Bouy B,Mornet E,Taillandier A,Serre JL,Boue J,Boue A

更新日期：1991-04-01 00:00:00

abstract：:We assessed the association between breast cancer (BC) and colorectal cancer (CRC) from referral pattern to the Regional Genetics Service including molecular analysis. Hospital computer records and/or department referral books were used to identify cases referred to the Regional Genetic Service during a 16-year period...

journal_title：Clinical genetics

authors： Naseem H,Boylan J,Speake D,Leask K,Shenton A,Lalloo F,Hill J,Trump D,Evans DG

更新日期：2006-11-01 00:00:00

abstract：:Cystic fibrosis (CF) is considered as a rare disease in black Africans. In fact, this disease is likely to be underestimated since clinical features consistent with CF diagnosis are often ascribed to environmental factors such as malnutrition. Very little is known about CFTR mutations in affected patients from Central...

journal_title：Clinical genetics

authors： Feuillet-Fieux MN,Ferrec M,Gigarel N,Thuillier L,Sermet I,Steffann J,Lenoir G,Bonnefont JP

更新日期：2004-04-01 00:00:00

abstract：:Tricho-dento-osseous (TDO) syndrome is an autosomal dominant trait characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. Genetic studies have identified a 4-bp deletion in the DLX3 gene that is associated with TDO; ...

journal_title：Clinical genetics

authors： Nguyen T,Phillips C,Frazier-Bower S,Wright T

更新日期：2013-04-01 00:00:00