Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees.

abstract：:A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of...

journal_title：Clinical genetics

authors： Bell JE,Gosden CM

更新日期：1978-05-01 00:00:00

abstract：:Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features, such as epibulbar dermoids, aplasia cutis congenita, pigmentary changes following Blaschko lines, bony tumor-like lesions, and others. About 20 cases with OES and more than 50 patients wit...

journal_title：Clinical genetics

authors： Boppudi S,Bögershausen N,Hove HB,Percin EF,Aslan D,Dvorsky R,Kayhan G,Li Y,Cursiefen C,Tantcheva-Poor I,Toft PB,Bartsch O,Lissewski C,Wieland I,Jakubiczka S,Wollnik B,Ahmadian MR,Heindl LM,Zenker M

更新日期：2016-10-01 00:00:00

abstract：:A variety of studies has linked vasoactive intestinal peptide (VIP) to idiopathic pulmonary arterial hypertension (IPAH). In this study, we investigated the correlation between VIP gene variants and IPAH in Chinese population. A total of 81 consecutive unrelated patients diagnosed as IPAH from 2006 to 2008 and 250 con...

journal_title：Clinical genetics

authors： Zhang Y,Zhang JQ,Liu ZH,Xiong CM,Ni XH,Hui RT,He JG,Pu JL

更新日期：2009-06-01 00:00:00

abstract：:Mutations in the surfactant protein (SP)-B gene are responsible for SP-B deficiency in congenital alveolar proteinosis (CAP) (Nogee et al. J Clin Invest 1994: 93: 1860-1883; Lin et al. Mol Genet Metab 1998: 64: 25-35; Klein et al. Pediatrics 1998: 132: 244-248; Ballard et al. Pediatrics 1995: 96: 1046-1052). The multi...

journal_title：Clinical genetics

authors： Lin Z,deMello DE,Batanian JR,Khammash HM,DiAngelo S,Luo J,Floros J

更新日期：2000-05-01 00:00:00

abstract：:The cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis is reported. G-banded chromosomes of cultured peripheral blood lymphocytes of one subject had a constitutional chromosomal translocation, t(7;13)(p22;q21). No constitutional chromosome abnormality was found in any of the other 22 Japan...

journal_title：Clinical genetics

authors： Kaneko K,Saito F,Sunohara N,Ikeuchi T

更新日期：1995-03-01 00:00:00

abstract：:A 14-year-old boy is reported with bilateral hypoplastic patellae and multiple congenital skeletal anomalies. Since this constellation of bony malformations has not been described previously, we believe this represents a new syndrome most probably of genetic etiology. ...

journal_title：Clinical genetics

authors： Sandhaus YS,Ben-Ami T,Chechick A,Goodman RM

更新日期：1987-03-01 00:00:00

abstract：:Women who carry fragile X mental retardation 1 (FMR1)gene premutation expansions frequently report neurological or endocrine symptoms and prior studies have predominantly focused on questionnaire report of medical issues. Premutation carrier (PMC) women (n = 33) and non-carrier controls (n = 13) were recruited and eva...

journal_title：Clinical genetics

authors： Hall D,Todorova-Koteva K,Pandya S,Bernard B,Ouyang B,Walsh M,Pounardjian T,Deburghraeve C,Zhou L,Losh M,Leehey M,Berry-Kravis E

更新日期：2016-01-01 00:00:00

abstract：:We have conducted a study to assess the opinions of parents of individuals with mucopolysaccharidoses (MPS) and adults with MPS regarding newborn screening (NBS) for this condition, as testing is now technically possible. A questionnaire including a number of hypothetical clinical scenarios about NBS for MPS was distr...

journal_title：Clinical genetics

authors： Hayes IM,Collins V,Sahhar M,Wraith JE,Delatycki MB

更新日期：2007-05-01 00:00:00

abstract：:It is generally presumed that the cystic fibrosis (CF) population is relatively homogeneous, and predominantly of European origin. The complex ethnic make-up observed in the CF patients collected by the North American CF Modifier Gene Consortium has brought this assumption into question, and suggested the potential fo...

journal_title：Clinical genetics

authors： Li W,Sun L,Corey M,Zou F,Lee S,Cojocaru AL,Taylor C,Blackman SM,Stephenson A,Sandford AJ,Dorfman R,Drumm ML,Cutting GR,Knowles MR,Durie P,Wright FA,Strug LJ

更新日期：2011-02-01 00:00:00

abstract：:Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...

journal_title：Clinical genetics

authors： Patak J,Gilfert J,Byler M,Neerukonda V,Thiffault I,Cross L,Amudhavalli S,Pacio-Miguez M,Palomares-Bralo M,Garcia-Minaur S,Santos-Simarro F,Powis Z,Alcaraz W,Tang S,Jurgens J,Barry B,England E,Engle E,Hess J,Lebel RR

更新日期：2019-12-01 00:00:00

abstract：:An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...

journal_title：Clinical genetics

authors： Sing CF,Zerba KE,Reilly SL

更新日期：1994-07-01 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：:Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA; MPS IIIA) is caused by a deficiency of the lysosomal enzyme haparan N-sulphatase (NS). The genomic DNA segments of the NS gene from two Chinese patients with MPS IIIA were amplified by polymerase chain reaction, followed by DNA sequencing to study the molecu...

journal_title：Clinical genetics

authors： Lee-Chen GJ,Lin SP,Ko MH,Chuang CK,Chen CP,Lee HH,Cheng SC,Shen CH,Tseng KL,Li CL

更新日期：2002-03-01 00:00:00

abstract：:Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510. ...

journal_title：Clinical genetics

authors： Diamond J

更新日期：2014-11-01 00:00:00

abstract：:Below-the-knee right leg hypoplasia and ipsilateral toe brachysyndactyly were observed in a 4-year-old female with an otherwise normal phenotype. Electromyographic and nerve conduction studies were normal. The Doppler evaluation was consistent with a 50% reduction in the blood supply from the femoral artery, suggestin...

journal_title：Clinical genetics

authors： Silengo M,Lerone M,Seri M,Boffi P

更新日期：1999-01-01 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：:Kyphomelic dysplasia is a rare form of generalized skeletal dysplasia with about 15 cases described so far in the literature. We present the clinical, radiological, and pathological findings of an antenatally detected female fetus affected with this disorder. The differential diagnoses of prenatal and perinatal semile...

journal_title：Clinical genetics

authors： Prasad C,Cramer BC,Pushpanathan C,Crowley MC,Ives EJ

更新日期：2000-11-01 00:00:00

abstract：:Major histocompatibility complex (MHC) haplotypes, including HLA-A, -B, -C and -DR and complotypes (BF, C2, C4A and C4B) were determined in a large family with inherited C4 deficiency. The propositus, a 12-year-old girl with complete C4 deficiency and SLE, had the MHC haplotypes HLA-A2,Cw3,-B40,-DR6,BFS,C2C,C4AQO,C4AB...

journal_title：Clinical genetics

authors： Sjöholm AG,Kjellman NI,Löw B

更新日期：1985-11-01 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：:Non-mosaic males with a 46,XY karyotype and a MECP2 null mutation display a phenotype of severe neonatal-onset encephalopathy that is distinctly different from Rett syndrome (RTT). To increase awareness of this rare disorder, we are reporting novel findings in a sporadic case, compare them to 16 previously reported ca...

journal_title：Clinical genetics

authors： Schüle B,Armstrong DD,Vogel H,Oviedo A,Francke U

更新日期：2008-08-01 00:00:00

abstract：:Whole exome sequencing and chromosomal microarrays are two powerful technologies that have transformed the ability of researchers to search for potentially causal variants in human disease. This study combines these tools to search for causal variants in a patient found to have maternal uniparental isodisomy of chromo...

journal_title：Clinical genetics

authors： Carmichael H,Shen Y,Nguyen TT,Hirschhorn JN,Dauber A

更新日期：2013-09-01 00:00:00

abstract：:An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence ...

journal_title：Clinical genetics

authors： Wallis CE,Shun-Shin M,Beighton PH

更新日期：1988-07-01 00:00:00

abstract：:CHARGE syndrome is a multiple congenital anomaly syndrome that can be life-threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T-cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adol...

journal_title：Clinical genetics

authors： Bergman JE,Blake KD,Bakker MK,du Marchie Sarvaas GJ,Free RH,van Ravenswaaij-Arts CM

更新日期：2010-03-01 00:00:00

abstract：:The cytoplasm of skin fibroblasts serially subcultured from the labium majus of normal human females binds 5alpha-dihydrotestosterone (5alpha-DHT) with high affinity and low capacity. Such binding was absent from the strains of two male pseudohermaphrodites with unambiguous female external genitalia: one of these was ...

journal_title：Clinical genetics

authors： Kaufman M,Straisfeld C,Pinsky L

更新日期：1976-06-01 00:00:00

abstract：:The Marden-Walker syndrome is characterized by psychomotor retardation, a mask-like face with blepharophimosis, micrognathia and a high-arched or cleft palate, low-set ears, kyphoscoliosis and joint contractures. We report on a male patient with the clinical features of the syndrome. In addition, he had a Dandy-Walker...

journal_title：Clinical genetics

authors： Schrander-Stumpel C,de Die-Smulders C,de Krom M,Schyns-Fleuran S,Hamel B,Jaeken D,Fryns JP

更新日期：1993-06-01 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：:The ability of statins to strongly reduce low-density lipoprotein cholesterol (LDL-C) varies interindividually and is partially influenced by genetic variants. Based on a comprehensive analysis of 23 single nucleotide polymorphisms (SNPs) known to be associated with pharmacokinetics and dynamics of statins, we develop...

journal_title：Clinical genetics

authors： Ciuculete DM,Bandstein M,Benedict C,Waeber G,Vollenweider P,Lind L,Schiöth HB,Mwinyi J

更新日期：2017-03-01 00:00:00

abstract：:A girl and her newborn brother with factor XIII deficiency from a family, which has not previously been reported, as described; two other Israeli families are reviewed. The sexes are equally affected. In two of the three families there was consanguinity among the parents. The families fit autosomal recessive inheritan...

journal_title：Clinical genetics

authors： Fried K,Kaufman S,Beer S

更新日期：1981-12-01 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：: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