Weyers acrodental dysostosis in a family.

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：:It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. F...

journal_title：Clinical genetics

authors： Dymerska D,Gołębiewska K,Kuświk M,Rudnicka H,Scott RJ,Billings R,Pławski A,Boruń P,Siołek M,Kozak-Klonowska B,Szwiec M,Kilar E,Huzarski T,Byrski T,Lubiński J,Kurzawski G

更新日期：2017-12-01 00:00:00

abstract：:This paper reports on the presentations from the second session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. The four talks in this session (by Sarah Cunningham-Burley, Gail Geller, Michael Hayden, and Theresa Marteau) focused on the topic of risk assessme...

journal_title：Clinical genetics

authors： Cox SM

更新日期：2006-11-01 00:00:00

abstract：:A Danish pedigree with olivo-ponto-cerebellar ataxia, transmitted as an autosomal dominant trait through six generations, has been studied. Forty-nine individuals were affected, and the main signs were staggering, ataxic gait, dysmetria and dysarthria. Early symptoms were always imbalance and clumsiness. Clinical feat...

journal_title：Clinical genetics

authors： Pedersen L

更新日期：1980-06-01 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：: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：:The most relevant phenotypic features seen in both proximal and distal partial trisomy 13 have been identified from a review of 35 cases. Clinical delineation of either proximal or distal partial trisomy 13 has been demonstrated through the use of conspicuous phenotypic differences. The findings of persistent foetal H...

journal_title：Clinical genetics

authors： Rogers JF

更新日期：1984-03-01 00:00:00

abstract：:It has been suggested that the form of X-linked mental retardation with macro-orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual meas...

journal_title：Clinical genetics

authors： Howard-Peebles PN,Stoddard GR

更新日期：1980-02-01 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：: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：:A sequencing protocol for the acid beta-glucosidase (GCase) gene (GBA) was developed using a long-range PCR template. This protocol has an advantage of greater DNA yields over similar strategies. Seven Gaucher's disease patients had four novel and five other rare alleles. A non-pseudogene in-frame deletion (g.2600-260...

journal_title：Clinical genetics

authors： Zhao H,Keddache M,Bailey L,Arnold G,Grabowski G

更新日期：2003-07-01 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：: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 report on a patient with Marfan's syndrome, with coexistent obstructive sleep hypopnea (OSH) and restrictive lung disease, complicated by respiratory insufficiency, who was successfully treated with nasal intermittent positive airway pressure (NIPPV) and oxygen. NIPPV therapy turned out to be effective on arterial ...

journal_title：Clinical genetics

authors： Verbraecken J,Paelinck BP,Willemen M,Van de Heyning P,De Backer W

更新日期：2003-02-01 00:00:00

abstract：:Marfan syndrome (MFS) is an autosomal dominant disorder of the fibrous connective tissue caused by mutations in the fibrillin-1 (FBN1) gene. Although clinical and genetic analyses have been performed in various populations, there have been few studies in Korea. The aim of this study was to investigate the clinical cha...

journal_title：Clinical genetics

authors： Yoo EH,Woo H,Ki CS,Lee HJ,Kim DK,Kang IS,Park P,Sung K,Lee CS,Chung TY,Moon JR,Han H,Lee ST,Kim JW

更新日期：2010-02-01 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：:Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underestimated. We report the cases of two unrelated Italian families in whom...

journal_title：Clinical genetics

authors： Zampetti A,Fania L,Antuzzi D,Giurdanella F,Gnarra M,Bertola F,Lualdi S,Filocamo M,Morrone A,Feliciani C

更新日期：2013-09-01 00:00:00

abstract：:Specific chromosome rearrangements associated with disease entities are invaluable resources for physical mapping. A deletion on the X chromosome of a male leads to the nullisomy for X-linked genes, resulting in the onset of genetic diseases and/or the absence of the DNA probe detectable sequences. This permits the lo...

journal_title：Clinical genetics

authors： Yang HM,Lund T,Niebuhr E,Nørby S,Schwartz M,Shen L

更新日期：1990-08-01 00:00:00

abstract：:Cystic fibrosis in the northern sector of the French "département" of Finistère is 1:1787 live births. Within this sector a concentration of the disease was found in a small area. The minimal frequency in this area, from 1946 to 1972, was calculated as 1 per 377 live births, the gene frequency being 0.0515. Genealogic...

journal_title：Clinical genetics

authors： Bois E,Feingold J,Demenais F,Runavot Y,Jehanne M,Toudic L

更新日期：1978-08-01 00:00:00

abstract：:Neurodevelopmental and psychological aspects in a child with 49XYYYY karotype are described. The developmental examination revealed mild mental retardation (I.Q.=50), disturbances in gross and fine motor development and speech disorders. The child was treated by developmental therapy which improved his abilities for a...

journal_title：Clinical genetics

authors： Sirota L,Shaghapour SE,Elitzur A,Sirota P

更新日期：1986-12-01 00:00:00

abstract：:The canonical wingless (Wnt) and fibroblast growth factor (FGF) signaling pathways involving CTNNB1 and TBX4, respectively, are crucial for the regulation of human development. Perturbations of these pathways and disruptions from biological homeostasis have been associated with abnormal morphogenesis of multiple organ...

journal_title：Clinical genetics

authors： Karolak JA,Szafranski P,Kilner D,Patel C,Scurry B,Kinning E,Chandler K,Jhangiani SN,Coban Akdemir ZH,Lupski JR,Popek E,Stankiewicz P

更新日期：2019-10-01 00:00:00

abstract：:The Coffin-Lowry syndrome (CLS) is a rare X-linked semidominant syndrome characterized by severe psychomotor retardation, facial dysmorphism, digit abnormalities and progressive skeletal deformations. CLS is caused by mutations in a gene located in Xp22.2, RPS6KA3. This gene encodes for a growth factor-regulated serin...

journal_title：Clinical genetics

authors： Delaunoy JP,Dubos A,Marques Pereira P,Hanauer A

更新日期：2006-08-01 00:00:00

abstract：:We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome features, but only one daugh...

journal_title：Clinical genetics

authors： Zinn AR,Ouyang B,Ross JL,Varma S,Bourgeois M,Tonk V

更新日期：1997-10-01 00:00:00

abstract：:Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for treatable diseases. The evolution of genetic testing to include multi-disease panels allows for new screening applications which ch...

journal_title：Clinical genetics

authors： Golden-Grant K,Merritt JL 2nd,Scott CR

更新日期：2015-12-01 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：:The basic science and development of therapies targeting the blood vascular system has enjoyed much focus due to the knowledge of the molecular mechanisms behind its development and roles in disease. However, the closely associated lymphatic system, while also being responsible for a number of serious and debilitating...

journal_title：Clinical genetics

authors： Kim H,Dumont DJ

更新日期：2003-10-01 00:00:00

abstract：:Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the imp...

journal_title：Clinical genetics

authors： Guazzarotti L,Tadini G,Mancini GE,Sani I,Pisanelli S,Galderisi F,D'Auria E,Secondi R,Bottero A,Zuccotti GV

更新日期：2018-03-01 00:00:00

abstract：:A girl in whom a ring chromosome 13 was found, presented with microcephaly, mental retardation and multiple minor malformations. She was born after a full term pregnancy, small for date and with a small head circumference. She underwent craniotomy at the age of 18 months because of premature closure of the metopic sut...

journal_title：Clinical genetics

authors： Fried K,Rosenblatt M,Mundel G,Krikler R

更新日期：1975-03-01 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：: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