Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis.

abstract：:Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, includ...

journal_title：Clinical genetics

authors： Basit S,Khan S,Ahmad W

更新日期：2015-09-01 00:00:00

abstract：:Two hundred and thirty-five survivors of myocardial infarction (MI) were compared to 384 controls with respect to distribution of genotypes and gene frequencies in the A1166C polymorphism at the angiotensin II type 1 receptor (AT1R) locus. No differences in allele frequencies or genotype distribution were observed whe...

journal_title：Clinical genetics

authors： Berge KE,Bakken A,Bøhn M,Erikssen J,Berg K

更新日期：1997-08-01 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：:The success of biomedical research in the past few decades has led to dramatic improvements in human health and, as a result, increased life expectancy. An unexpected consequence, however, has been an increase in the number of age-related diseases and, in particular, neurodegenerative diseases. Despite their prevalenc...

journal_title：Clinical genetics

authors： Michno K,van de Hoef D,Wu H,Boulianne GL

更新日期：2005-06-01 00:00:00

abstract：:A psoriatic osteoarthropathy localized in the left quadrant of a male patient is described. Diagnosis was made on the basis of bone scintigraphy (specific distribution pattern) and histological evaluation of a bone biopsy. There is no indication of psoriasis in the patient's family. Nor is there an association to psor...

journal_title：Clinical genetics

authors： Holzmann H,Schmitt M,Happle R,Kaltwasser P,Hör G

更新日期：1994-08-01 00:00:00

abstract：:Emery-Dreifuss muscular dystrophy (EDMD) is a heterogeneous genetic disorder characterized by peripheral muscular weakness often associated with dilated cardiomyopathy. We characterize clinically a large family with a mutation in FHL1 gene (p.Cys255Ser). Penetrance was 44%, 100% for males and 18% for females. The hear...

journal_title：Clinical genetics

authors： San Román I,Navarro M,Martínez F,Albert L,Polo L,Guardiola J,García-Molina E,Muñoz-Esparza C,López-Ayala JM,Sabater-Molina M,Gimeno JR

更新日期：2016-08-01 00:00:00

abstract：:Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker systems. We found 4.85% of the parents to be red-haired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z = ...

journal_title：Clinical genetics

authors： Eiberg H,Mohr J

更新日期：1987-08-01 00:00:00

abstract：:The logistic regression model is a popular model for data analysis in epidemiological research. In this paper, we use this model to analyze genetic data collected from gene-longevity association studies. This new approach models the probability of observing one genotype as a function of the age of investigated individ...

journal_title：Clinical genetics

authors： Tan Q,Yashin AI,De Benedictis G,Cintolesi F,Rose G,Bonafe M,Franceschi C,Vach W,Vaupel JW

更新日期：2001-12-01 00:00:00

abstract：:Cutis laxa (CL) syndromes comprise a rare group of multisystem disorders that share loose redundant skin folds as hallmark clinical feature. CL results from impaired elastic fiber assembly and homeostasis, and the known underlying gene defects affect different extracellular matrix proteins, intracellular trafficking, ...

journal_title：Clinical genetics

authors： Beyens A,Boel A,Symoens S,Callewaert B

更新日期：2021-01-01 00:00:00

abstract：:The first appearance of an autosomal dominant disease in a family is often attributed to new mutation, and the parents may be given a very low risk of recurrence for future offspring. This counseling is not appropriate if penetrance of the disease is incomplete and the reproductive fitness of affected individuals is c...

journal_title：Clinical genetics

authors： Friedman JM

更新日期：1985-01-01 00:00:00

abstract：:Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed (phenotype Apo E-D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteine...

journal_title：Clinical genetics

authors： Utermann G,Vogelberg KH,Steinmetz A,Schoenborn W,Pruin N,Jaeschke M,Hees M,Canzler H

更新日期：1979-01-01 00:00:00

abstract：:The effects of apolipoprotein (apo) A-IV genotype on serum glucose, total cholesterol, low density lipoprotein (LDL) cholesterol, high density lipoprotein (HDL) cholesterol, triglyceride and glucose concentrations were ascertained in a population of 373 men and 361 women with a mean age of about 57 years. Subjects wer...

journal_title：Clinical genetics

authors： Larson IA,Ordovas JM,Sun Z,Barnard,Lohrmann J,Feussner G,Lamon-Fava S,Schaefer EJ

更新日期：2002-06-01 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：: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：:An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in genera...

journal_title：Clinical genetics

authors： Cohen MM Jr,Kreiborg S

更新日期：1992-01-01 00:00:00

abstract：:A premature male infant is described in whom the presence of coarse facies, diaphragmatic hernia, genital anomalies and Dandy-Walker malformation suggested a diagnosis of Fryns' syndrome. Lymphocyte karyotype revealed a partial trisomy 22, and his mother carried an apparently balanced 11/22 translocation. Three infant...

journal_title：Clinical genetics

authors： Dean JC,Couzin DA,Gray ES,Lloyd DJ,Stephen GS

更新日期：1991-11-01 00:00:00

abstract：:A 28-year-old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductiv...

journal_title：Clinical genetics

authors： Verschraegen-Spae MR,Depypere H,Speleman F,Dhondt M,De Paepe A

更新日期：1992-04-01 00:00:00

abstract：:The increasing use of array-comparative genomic hybridization (array-CGH) to identify copy number variations (CNVs) in patients with developmental delay (DD), mental retardation and/or dysmorphic features has allowed the recent recognition of numerous genomic imbalances, including the 15q13.3 microdeletion. Patients w...

journal_title：Clinical genetics

authors： Masurel-Paulet A,Andrieux J,Callier P,Cuisset JM,Le Caignec C,Holder M,Thauvin-Robinet C,Doray B,Flori E,Alex-Cordier MP,Beri M,Boute O,Delobel B,Dieux A,Vallee L,Jaillard S,Odent S,Isidor B,Beneteau C,Vigneron J,

更新日期：2010-08-01 00:00:00

abstract：:Myotonic dystrophy (MD) is an autosomal dominant disorder that has a high prevalence in Saguenay-Lac-St-Jean. A case-control study, based on a population register, of 373 MD patients who married in this region between 1855 and 1971 was conducted to determine whether their fertility was affected by the disorder. Six de...

journal_title：Clinical genetics

authors： Dao TN,Mathieu J,Bouchard JP,De Braekeleer M

更新日期：1992-11-01 00:00:00

abstract：:Depression during pregnancy can have serious consequences for families. Indications of fetal aneuploidy can induce maternal stress, a risk factor for depression. Few studies have assessed symptoms of depression in pregnant women soon after they receive results indicating increased risk for fetal aneuploidy. We compare...

journal_title：Clinical genetics

authors： Hippman C,Oberlander TF,Honer WG,Misri S,Austin JC

更新日期：2009-01-01 00:00:00

abstract：:The syndrome of peroneal muscular atrophy, or Charcot-Marie-Tooth (CMT), disease represents the most common inherited peripheral neuropathy, with a prevalence of about 1 per 2500. The disease is usually transmitted in an autosomal dominant fashion, although it can display all the mendelian patterns of inheritance. The...

journal_title：Clinical genetics

authors： Guzzetta V,Santoro L,Gasparo-Rippa P,Ragno M,Vita G,Caruso G,Andria G

更新日期：1995-01-01 00:00:00

abstract：:Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childh...

journal_title：Clinical genetics

authors： Moizard MP,Ronce N,Blesson S,Bieth E,Burglen L,Mignot C,Mortemousque I,Marmin N,Dessay B,Danesino C,Feillet F,Castelnau P,Toutain A,Moraine C,Raynaud M

更新日期：2011-03-01 00:00:00

abstract：:Glucose-galactose malabsorption (GGM) is an autosomal recessive disease with life-threatening newborn diarrhea caused by mutations in the Na(+) /glucose cotransporter gene SLC5A1. Because of its rarity, the clinical course of the disease has not been well studied. Here, we report 33 patients with GGM from a large Old ...

journal_title：Clinical genetics

authors： Xin B,Wang H

更新日期：2011-01-01 00:00:00

abstract：:Extended genealogical studies stretching back to the 17th century were performed concerning the heredity patterns of vitreous involvement in Swedish patients with familial amyloidotic polyneuropathy (FAP). FAP is an autosomal dominant inherited disorder, characterized by extracellular deposition of amyloid and a clini...

journal_title：Clinical genetics

authors： Sandgren O,Drugge U,Holmgren G,Sousa A

更新日期：1991-12-01 00:00:00

abstract：:Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations but also the severity of phenotype, symptom burden, and the risk of complications, such as heart failure and sudden death. The p...

journal_title：Clinical genetics

authors： Sabater-Molina M,Pérez-Sánchez I,Hernández Del Rincón JP,Gimeno JR

更新日期：2018-01-01 00:00:00

abstract：:The forkhead, Fox, gene family comprises a diverse group of 'winged-helix' transcription factors that play important roles in development, metabolism, cancer and aging. Recently, several forkhead genes have been demonstrated to play critical roles in lymphocyte development and effector functions. Alterations of the FO...

journal_title：Clinical genetics

authors： Amorosi S,D'Armiento M,Calcagno G,Russo I,Adriani M,Christiano AM,Weiner L,Brissette JL,Pignata C

更新日期：2008-04-01 00:00:00

abstract：:There has been a paucity of research into the psychosocial impact of juvenile Huntington's disease (JHD) on the child and the family. The study reported here is part of larger project that aimed to address this and investigate the social and health care needs of those affected by JHD. Ten semistructured interviews wit...

journal_title：Clinical genetics

authors： Smith JA,Brewer HM,Eatough V,Stanley CA,Glendinning NW,Quarrell OW

更新日期：2006-06-01 00:00:00

abstract：:Two patients are reported who presented with 4q deletion and r(4), respectively. Cytogenetic and FISH analysis defined the breakpoints respectively at bands 4q33-->q35 proximal to the telomere, and 4pter and 4q35.2 qter. Moreover in both cases rearranged chromosomes maintained telomeric sequences. The first patient sh...

journal_title：Clinical genetics

authors： Calabrese G,Giannotti A,Mingarelli R,Di Gilio MC,Piemontese MR,Palka G

更新日期：1997-04-01 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：:Thyroid function has been studied in 121 patients between 13 and 48 years old with proven Down syndrome. Chemically, hypothyroidism was found in 17% and hyperthyroidism in 2.5% of the patients; 18% of patients had goiter. Thyroid antibodies were detected in 33% of subjects studied. The abnormal findings were almost eq...

journal_title：Clinical genetics

authors： Sare Z,Ruvalcaba RH,Kelley VC

更新日期：1978-09-01 00:00:00