Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.

abstract：:In this report, we describe a male infant with a 45,X karyotype; the entire short arm and the centromere of the Y chromosome were translocated onto the short arm of chromosome 18, resulting in an unbalanced dicentric chromosome. Breakpoints were identified by in situ fluorescence hybridization (FISH) on the proximal Y...

journal_title：Clinical genetics

authors： Gimelli G,Cinti R,Varone P,Naselli A,Di Battista E,Pezzolo A

更新日期：1996-01-01 00:00:00

abstract：:Whole-exome sequencing (WES) has transformed our ability to detect mutations causing rare diseases. FORGE (Finding Of Rare disease GEnes) and Care4Rare Canada are nation-wide projects focused on identifying disease genes using WES and translating this technology to patient care. Rare forms of epilepsy are well-suited ...

journal_title：Clinical genetics

authors： Dyment DA,Tétreault M,Beaulieu CL,Hartley T,Ferreira P,Chardon JW,Marcadier J,Sawyer SL,Mosca SJ,Innes AM,Parboosingh JS,Bulman DE,Schwartzentruber J,Majewski J,Tarnopolsky M,Boycott KM,FORGE Canada Consortium.,Care4Rar

更新日期：2015-07-01 00:00:00

abstract：:It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and...

journal_title：Clinical genetics

authors： Gold RJ,Rose V,Yau Y

更新日期：1987-09-01 00:00:00

abstract：:Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 mi...

journal_title：Clinical genetics

authors： An XK,Fang J,Yu ZZ,Lin Q,Lu CX,Qu HL,Ma QL

更新日期：2017-08-01 00:00:00

abstract：:Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecti...

journal_title：Clinical genetics

authors： Schönewolf-Greulich B,Tejada MI,Stephens K,Hadzsiev K,Gauthier J,Brøndum-Nielsen K,Pfundt R,Ravn K,Maortua H,Gener B,Martínez-Bouzas C,Piton A,Rouleau G,Clayton-Smith J,Kleefstra T,Bisgaard AM,Tümer Z

更新日期：2016-06-01 00:00:00

abstract：:We identified the homozygous p.Arg12* variant in 5 patients with neurodevelopmental delay, but variation databases list many truncating heterozygous variants for this small 2-exon gene. As most of these affect the protein's C-terminus, loss-of-function mediated pathogenicity may be confined to bi-allelic truncating va...

journal_title：Clinical genetics

authors： Yavuz H,Bertoli-Avella AM,Alfadhel M,Al-Sannaa N,Kandaswamy KK,Al-Tuwaijri W,Rolfs A,Brandau O,Bauer P

更新日期：2018-10-01 00:00:00

abstract：:This report concerns two patients with clinical features typical for tetrasomy 18p syndrome. Chromosomal analysis revealed a male karyotype in both cases, with an additional small metacentric marker chromosome, putatively an i(18p). Fluorescent in situ hybridization with a chromosome 18-specific paint confirmed that t...

journal_title：Clinical genetics

authors： Back E,Toder R,Voiculescu I,Wildberg A,Schempp W

更新日期：1994-06-01 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：:With philatelic illustrations, we review sickle cell anemia, some of the common hemoglobinopathies, and their relevance to malaria. We discuss the mechanism by which hemoglobinopathies arise, the progress made with pre-natal screening, as well as innovative therapies. We review recent developments in the pathophysiolo...

journal_title：Clinical genetics

authors： Richer J,Chudley AE

更新日期：2005-10-01 00:00:00

abstract：:FLNC-related myofibrillar myopathy could manifest as autosomal dominant late-onset slowly progressive proximal muscle weakness; involvements of cardiac and/or respiratory functions are common. We describe 34 patients in nine families of FLNC-related myofibrillar myopathy in Hong Kong ethnic Chinese diagnosed over the ...

journal_title：Clinical genetics

authors： Lee HH,Wong S,Sheng B,Pan NK,Leung YF,Lau KD,Cheng YS,Ho LC,Li R,Lee CN,Tsoi TH,Cheung YN,Fu YM,Kan NA,Chu YP,Au WL,Yeung HJ,Li SH,Cheung CM,Tong HF,Hung LE,Chan TY,Li CT,Tong TT,Tong TC,Leung HC,Lee K

更新日期：2020-05-01 00:00:00

abstract：:The mitochondrial 1555A>G mutation is one of the most common mutations responsible for hearing loss in Asians. Although the association with aminoglycoside exposure is well known, there is great variation in the severity of hearing loss. We analyzed hearing levels in 221 Japanese individuals with this mutation and att...

journal_title：Clinical genetics

authors： Lu SY,Nishio S,Tsukada K,Oguchi T,Kobayashi K,Abe S,Usami S

更新日期：2009-05-01 00:00:00

abstract：:Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic ...

journal_title：Clinical genetics

authors： Romdhane L,Messaoud O,Bouyacoub Y,Kerkeni E,Naouali C,Cherif Ben Abdallah L,Tiar A,Charfeddine C,Monastiri K,Chabchoub I,Hachicha M,Tadmouri GO,Romeo G,Abdelhak S

更新日期：2016-03-01 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：:In order to investigate the interdependent action of the insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene and polymorphism in exon 11 (C1136-->T; Ala379Val) of the platelet-activating factor acetylhydrolase (PAF-AH) gene, which encodes a functional antagonist of PAF, on the progression o...

journal_title：Clinical genetics

authors： Yoon HJ,Kim H,Kim HL,Lee SG,Zheng SH,Shin JH,Lim CS,Kim S,Lee JS,Lee DS,Kim YS

更新日期：2002-08-01 00:00:00

abstract：:Two novel missense mutations, 1939G to A (R518Q) and 2017A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable...

journal_title：Clinical genetics

authors： Imamura A,Suzuki Y,Song XQ,Fukao T,Uchiyama A,Shimozawa N,Kamijo K,Hashimoto T,Orii T,Kondo N

更新日期：1997-05-01 00:00:00

abstract：:Clinical, cytogenetic, and immunological data of a 5-year-old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high frequency in sister chromat...

journal_title：Clinical genetics

authors： Kawashima H,Sato T,Taniguchi N,Yagi T,Ishizaki K,Takebe H

更新日期：1980-02-01 00:00:00

abstract：:A photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 29 individuals with Williams syndrome (WS; 18 males and 11 females) between the ages of 0 to 10 years, with an average age of 4.0 years. Facial parameters were mea...

journal_title：Clinical genetics

authors： Hovis CL,Butler MG

更新日期：1997-06-01 00:00:00

abstract：:Allogeneic bone marrow transplantation was carried out in an 81-day-old Portuguese water dog with GM1 gangliosidosis using a DLA identical sibling as donor. Engraftment was complete and beta-galactosidase activity in leukocytes of the transplanted dog were similar to those in the donor. Over the next 2.5 months neurol...

journal_title：Clinical genetics

authors： O'Brien JS,Storb R,Raff RF,Harding J,Appelbaum F,Morimoto S,Kishimoto Y,Graham T,Ahern-Rindell A,O'Brien SL

更新日期：1990-10-01 00:00:00

abstract：:More than 80% of the first degree relatives of 106 patients with iron overload - 97 with idiopathic haemochromatosis (I.H.) and nine with haemosiderosis secondary to alcohol induced liver disease (A.H. - were examined. Physical examination and measurement of plasma iron level and UIBC were done in all subjects; relati...

journal_title：Clinical genetics

authors： Simon M,Alexandre JL,Bourel M,Le Marec B,Scordia C

更新日期：1977-05-01 00:00:00

abstract：:The genetic underpinnings of recessively inherited moderate to severe sensorineural hearing loss are not well understood, despite its higher prevalence in comparison to profound deafness. We recruited 92 consanguineous families segregating stable or progressive, recessively inherited moderate or severe hearing loss. W...

journal_title：Clinical genetics

authors： Naz S,Imtiaz A,Mujtaba G,Maqsood A,Bashir R,Bukhari I,Khan MR,Ramzan M,Fatima A,Rehman AU,Iqbal M,Chaudhry T,Lund M,Brewer CC,Morell RJ,Friedman TB

更新日期：2017-04-01 00:00:00

abstract：:We have recently characterized the transcriptome of the omental adipose tissue of non-diabetic, obese men with and without the metabolic syndrome (MS). The cysteine-rich protein 61 (CYR61) is one of the most differentially expressed genes between the groups and has been selected for a detailed molecular investigation....

journal_title：Clinical genetics

authors： Bouchard L,Tchernof A,Deshaies Y,Lebel S,Hould FS,Marceau P,Vohl MC

更新日期：2007-09-01 00:00:00

abstract：:In a country-wide screening examination in Sweden, PKU was observed in 75 (4.5 per 1,000) and hyperphenylalaninemia in 14 (0.8 per 1,000) of a total of 16,805 patients in institutions for the mentally retarded. In the national neonatal screening program in 1965-1975, which covered nearly 1 million individuals, PKU was...

journal_title：Clinical genetics

authors： Holmgren G,Larsson A,Palmstierna H,Alm J

更新日期：1976-12-01 00:00:00

abstract：:We have observed a 49 bp tandem duplication adjacent to the triplet repeat of the FMR1 gene and have shown it to occur as a variant in Finland. It affects the primers commonly used in molecular analysis of fragile X syndrome by polymerase chain reaction (PCR) methods. One concern is that females with the full mutation...

journal_title：Clinical genetics

authors： Mononen T,von Koskull H,Airaksinen RL,Juvonen V

更新日期：2007-12-01 00:00:00

abstract：:This is a case report on an infant with de novo terminal deletions on the long arm of chromosome 14 and on the short arm of chromosome 20 [46, XX, del(14)(q32)del(20)(p11)]. Examination revealed that the infant had a peculiar face, a cleft and high palate, abnormal dentition, butterfly-like vertebral defects, finger a...

journal_title：Clinical genetics

authors： Uehara S,Akai Y,Takeyama Y,Okamura K,Takabayashi T,Yajima A,Natsui M,Nakai H

更新日期：1993-01-01 00:00:00

abstract：:Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap compr...

journal_title：Clinical genetics

authors： Aagaard Nolting L,Brasch-Andersen C,Cox H,Kanani F,Parker M,Fry AE,Loddo S,Novelli A,Dentici ML,Joss S,Jørgensen JP,Fagerberg CR

更新日期：2020-06-01 00:00:00

abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder manifested in cleft lip and/or palate and lip pits. Isolated clefts of the lip and/or palate (ICLP) have both genotype and phenotype overlap with VWS. Subjects with ICLP have abnormalities in brain structure and function. Given the similarities between VWS...

journal_title：Clinical genetics

authors： Nopoulos P,Richman L,Andreasen NC,Murray JC,Schutte B

更新日期：2007-06-01 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：:Macular corneal dystrophy (MCD) is an autosomal recessive disease characterized by corneal opacities and caused by mutations in a carbohydrate sulfotransferase gene, known as CHST6. MCD type I patients show missense mutations in the CHST6-coding region, and MCD type II patients show a large deletion and replacement in...

journal_title：Clinical genetics

authors： Abbruzzese C,Kuhn U,Molina F,Rama P,De Luca M

更新日期：2004-02-01 00:00:00

abstract：:Rare heritable syndromes may affect educational attainment. Here, we study education in neurofibromatosis 1 (NF1) that is associated with multifaceted medical, social and cognitive consequences. Educational attainment in the Finnish population-based cohort of 1408 individuals with verified NF1 was compared with matche...

journal_title：Clinical genetics

authors： Johansson E,Kallionpää RA,Böckerman P,Peltonen J,Peltonen S

更新日期：2020-12-27 00:00:00

abstract：:In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their conto...

journal_title：Clinical genetics

authors： German J

更新日期：1979-12-01 00:00:00