Aortic root diameter and nasal intermittent positive airway pressure treatment in Marfan's syndrome.

abstract：BACKGROUND:Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect copy number variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). AIMS:Identification of genomic disorders in DD/ID. MATERIALS AND METHODS:We performed a comprehensive array-CGH investiga...

journal_title：Clinical genetics

authors： Di Gregorio E,Riberi E,Belligni EF,Biamino E,Spielmann M,Ala U,Calcia A,Bagnasco I,Carli D,Gai G,Giordano M,Guala A,Keller R,Mandrile G,Arduino C,Maffè A,Naretto VG,Sirchia F,Sorasio L,Ungari S,Zonta A,Zacchetti

更新日期：2017-10-01 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：:A 28-year-old woman who complained of irregular menstruation was diagnosed as suffering from trisomy 18 mosaicism. She was karyotyped because of her characteristic face, mild mental retardation and aberrant hyperpigmentation of the skin. Her motor function was within normal range. Physical and laboratory examinations,...

journal_title：Clinical genetics

authors： Uehara S,Obara Y,Obara T,Funato T,Yaegashi N,Fukaya T,Yajima A

更新日期：1996-02-01 00:00:00

abstract：:An African American male of West Indies descent was diagnosed to have elevated transferrin saturation, hyperferritinemia, severe iron deposition in hepatocytes, and hepatic cirrhosis at age 4. He was treated with serial phlebotomy to maintain a normal serum ferritin concentration thereafter. We evaluated him at age 23...

journal_title：Clinical genetics

authors： Murugan RC,Lee PL,Kalavar MR,Barton JC

更新日期：2008-07-01 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：:Debate continues as to why executive function (EF) continues to show impairments in children with early and continuously treated phenylketonuria (ECT-PKU). Using a mixed model, we measured EF in 10 adolescent children with ECT-PKU and 6 sibling controls, and examined associations between EF and (1) phenylalanine (phe)...

journal_title：Clinical genetics

authors： Sharman R,Sullivan K,Young R,McGill J

更新日期：2009-02-01 00:00:00

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

authors： Porter LF,Black GC

更新日期：2014-07-01 00:00:00

abstract：:Here we report two families with myotonic dystrophy (DM) in which the asymptomatic parent proved to be in a pre-mutation state. Polymerase chain reaction (PCR) analysis of the region spanning the CTG expansion demonstrated that one father of the proband possessed (CTG)n repeats of n = 12 and 44 copies and the other of...

journal_title：Clinical genetics

authors： Yamagata H,Kinoshita M,Komori T,Kondo I,Miki T

更新日期：1998-10-01 00:00:00

abstract：:The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different org...

journal_title：Clinical genetics

authors： Brieger J,Weidt EJ,Gansen K,Decker HJ

更新日期：1999-09-01 00:00:00

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

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

abstract：:Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 pati...

journal_title：Clinical genetics

authors： Kaur K,Reddy AB,Mukhopadhyay A,Mandal AK,Hasnain SE,Ray K,Thomas R,Balasubramanian D,Chakrabarti S

更新日期：2005-04-01 00:00:00

abstract：:To obtain insight into the genetic variation of the low-density lipoprotein (LDL) receptor gene in Korean patients with familial hypercholesterolemia (FH), we used single-strand conformation polymorphism to screen all 18 exons and a promotor of the LDL receptor gene in 20 unrelated Korean FH patients. Four novel point...

journal_title：Clinical genetics

authors： Shin JA,Kim SH,Kim UK,Chae JJ,Choe SJ,Namkoong Y,Kim HS,Park YB,Lee CC

更新日期：2000-03-01 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：:Carriers for chronic granulomatous disease (CGD) and patients with lupus erythematosus (LE) share several characteristics: They are mostly females, they reduce nitroblue tetrazolium (NBT) poorly in their neutrophils, and, in some cases, they have similar skin lesions. We thus investigated 19 female LE patients for the...

journal_title：Clinical genetics

authors： Humbert JR,Fishman CB,Weston WL,DeArmey PA,Thoren CH

更新日期：1976-07-01 00:00:00

abstract：:We describe a pedigree in which four male members are affected by a contiguous gene abnormality involving the short arm of the X chromosome (Xp22.32). Bivariate flow cytometry of lymphoblastoid cell lines from two of these individuals and a normal male showed a 6-7 megabase deletion in affected males, and high resolut...

journal_title：Clinical genetics

authors： Bouloux PM,Kirk J,Munroe P,Duke V,Meindl A,Hilson A,Grant D,Carter N,Betts D,Meitinger T

更新日期：1993-04-01 00:00:00

abstract：:A slowly progressive type of muscular dystrophy affecting 11 known members of several Southern Manitoba Hutterite colonies is described. Though encompassing the facial characteristics of the facio-scapulo-humeral type and the proximal distribution of the limb-girdle type, it was felt that this disease represents a dis...

journal_title：Clinical genetics

authors： Shokeir MH,Kobrinsky NL

更新日期：1976-02-01 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：:Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston He...

journal_title：Clinical genetics

authors： Knapp RG,Schreiner PJ,Sutherland SE,Keil JE,Gilbert GE,Klein RL,Hames C,Tyroler HA

更新日期：1993-11-01 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：:Second trimester amniotic fluid samples obtained transabdominally for genetic analysis not infrequently are contaminated with blood. There has been disagreement as to whether blood contamination interferes with the efficiency of culture of amniotic fluid cells for genetic diagnosis. A procedure using ammonium chloride...

journal_title：Clinical genetics

authors： Felix JS,Doherty RA

更新日期：1979-03-01 00:00:00

abstract：:The Vietnam Era Twin Registry (VETR) is a registry of 7375 American male veteran twin pairs born between 1939 and 1955 who served in the armed forces of the United States between 1964 and 1975. Optimal use of registry data requires the determination of zygosity. Two approaches are available: analysis of blood genetic ...

journal_title：Clinical genetics

authors： Eisen S,Neuman R,Goldberg J,Rice J,True W

更新日期：1989-06-01 00:00:00

abstract：:Two brothers showed ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation. In addition, the younger brother had short stature associated with disorders of secretions of insulin, ACTH and GH. This is the third reported case of the syndrome of ichthyosis and hypogonadism. ...

journal_title：Clinical genetics

authors： Abe K,Matsuda I,Matsuura N,Murayama T,Uzuki K,Okuno A

更新日期：1976-03-01 00:00:00

abstract：:In a clinical setting diagnosis, heritability, risk and outcome of human disease rely heavily on the use of markers present in specific tissues. In the past decade, the development of genome-wide, non-hypothesis driven methods to identify molecular markers associated with disease have led to the discovery of numerous ...

journal_title：Clinical genetics

authors： Zaina S,Lund G

更新日期：2012-04-01 00:00:00

abstract：:RUNX2 (Runt-related transcription factor 2) is a master regulator of osteoblast differentiation, cartilage and bone development. Pathogenic variants in RUNX2 have been linked to the Cleidocranial dysplasia (CCD), which is characterized by hypoplasia or aplasia of clavicles, delayed fontanelle closure, and dental anoma...

journal_title：Clinical genetics

authors： Hordyjewska-Kowalczyk E,Sowińska-Seidler A,Olech EM,Socha M,Glazar R,Kruczek A,Latos-Bieleńska A,Tylzanowski P,Jamsheer A

更新日期：2019-11-01 00:00:00

abstract：:It is often thought that the incidence of genetic disease is rising, because improved medical care is increasing the survival, and therefore the cumulative number of affected people. This examination of the genetic implications of recent demographic change in Europe suggests that the incidence of genetic disease is in...

journal_title：Clinical genetics

authors： Modell B,Kuliev AM

更新日期：1989-11-01 00:00:00

abstract：:XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) lev...

journal_title：Clinical genetics

authors： Chen X,Meng Y,Tang M,Wang Y,Xie Y,Wan S,Tian H,Yu X

更新日期：2020-05-01 00:00:00

abstract：:Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impairment the critical parameter classically used to distinguish this form...

journal_title：Clinical genetics

authors： Aller E,Jaijo T,Oltra S,Alió J,Galán F,Nájera C,Beneyto M,Millán JM

更新日期：2004-12-01 00:00:00

abstract：:Split hand foot malformation (SHFM) is a congenital limb malformation presenting with a median cleft of the hand and/or foot, syndactyly and polydactyly. SHFM is genetically heterogeneous with four loci mapped to date. Murine Dactylaplasia (Dac) is phenotypically similar, and it has been mapped to a syntenic region of...

journal_title：Clinical genetics

authors： Basel D,DePaepe A,Kilpatrick MW,Tsipouras P

更新日期：2003-10-01 00:00:00

abstract：:A large variety of mutations within the genes encoding hepcidin (HAMP) and hemojuvelin (HJV) have been identified in patients with the severe iron overload disorder juvenile hemochromatosis (JH). The aim of the present study was to evaluate the molecular background of JH in patients from central parts of Europe. Seque...

journal_title：Clinical genetics

authors： Gehrke SG,Pietrangelo A,Kascák M,Braner A,Eisold M,Kulaksiz H,Herrmann T,Hebling U,Bents K,Gugler R,Stremmel W

更新日期：2005-05-01 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