Citations with the tag: MENTAL retardation
Results 101 - 150
- Kabuki Syndrome: Absence of 8p22-8p23.1 Duplication in Five Arab Children.
Marafie, Makia; Henedi, M. Abo; Bastaki, L.; Abulhasan, S. // Journal of Medical Genetics; Sep2005, Vol. 42, pS44
Presents an abstract of the article "Kabuki Syndrome: Absence of 8p22-8p23.1 Duplication in Five Arab Children," by Makia Marafie, M. Abo Henedi, L. Bastaki, and S. Abulhasan.
- Kabuki Syndrome and Hyperinsulinism - A Report of Two Cases.
Robert, M. L. P.; Turnpenny, P.; Whitehead, M. // Journal of Medical Genetics; Sep2005, Vol. 42, pS51
Presents an abstract of the article "Kabuki Syndrome and Hyperinsulinism - A Report of Two Cases," by M.L.P. Robert, P. Turnpenny, and M. Whiteford.
- Cryptic Subtelomeric Rearrangements in Children With Mental Retardation and Dysmorphism.
Sousa, Ana Berta; Medeira, A.; Cordeiro, I.; Lemos, R.; Rendeiro, P.; Santos, H. G. // Journal of Medical Genetics; Sep2005, Vol. 42, pS56
Presents an abstract of the article "Cryptic Subtelomeric Rearrangements in Children With Mental Retardation and Dysmorphism," by Ana Berta Sousa, A. Medeira, I. Cordeiro, R. Lemos, P. Rendeiro, and H. G. Santos.
- Evaluating MLPA for Use in Diagnostic Telomere Screening: A Comparison With Commercially Available FISH Kits.
Massie, Doreen; Clark, C.; Grant, F.; Goldie, B.; Gallagher, L.; Couzin, D.; Dean, J. C. S. // Journal of Medical Genetics; Sep2005, Vol. 42, pS75
Presents an abstract of the article "Evaluating MLPA for Use in Diagnostic Telomere Screening: A Comparison With Commercially Available FISH Kits," by Doreen Massie, C. CLark, F. Grant, B. Goldie, L. Gallagher, D. Couzin, and J. C. S. Dean.
- High-Throughput Screening Service for Submicroscopic Genomic Imbalance.
Joo Wook Ahn; Hallam, A.; Ogilvie, C. Mackie; Mann, K. // Journal of Medical Genetics; Sep2005, Vol. 42, pS76
Presents an abstract of the article "High-Throughput Screening Service for Submicroscopic Genomic Imbalance," by Joo Wook Ahn, A. Hallam, C. Mackie Ogilvie, and K. Mann.
- Analysis of Subtelomeric Rearrangements Using MLPA in Patients With Mental Retardation, a Comparison With FISH.
Delaney, Carol A.; Mavrogiannis, L.; Morris, S. P.; Roberts, P.; Cockburn, D. J.; Williams, J.; Taylor, G. R. // Journal of Medical Genetics; Sep2005, Vol. 42, pS86
Presents an abstract of the article "Analysis of Subtelomeric Rearrangements Using MLPA in Patients With Mental Retardation, a Comparison With FISH," by Carol A. Delaney, L. Mavrogiannis, S. P. Morris, P. Roberts, D. J. Cockburn, J. Williams, and G. R. Taylor.
- The Emerging 22q11 Duplication Syndrome: Two Familial Cases.
Carolina, Irene; Geddes, N.; Sibbald, J.; Larkins, S. A.; Davison, E. V. // Journal of Medical Genetics; Sep2005, Vol. 42, pS87
Presents an abstract of the article "The Emerging 22q11 Duplication Syndrome: Two Familial Cases," by Irene Carolina, N. Geddes, J. Sibbald, S. A. Larkins, and E. V. Davison.
- Support Groups for Parents of Children with Heart Disease -- Boone or Bane?
Rowland, Thomas W.; Armstrong, Stephen H. // Clinical Pediatrics; Apr1983, Vol. 22 Issue 4, p322
Presents a letter to the editor the success of groups involving parents of children with diseases ranging from mental retardation to cleft palate to child abuse.
- Dominant transmission of mental handicap.
Rowland, Thomas W.; Armstrong, Stephen H. // British Medical Journal; 12/3/1977, Vol. 2 Issue 6100, p1438
Focuses on the transmission of mental handicap. Predominance of chromosome errors; Importance of genetic counseling on mentally-ill persons; Basis of genetic counseling.
- Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Zenker, Martin; Mayerle, Julia; Lerch, Markus M; Tagariello, Andreas; Zerres, Klaus; Durie, Peter R; Beier, Matthias; Hülskamp, Georg; Guzman, Celina; Rehder, Helga; Beemer, Frits A; Hamel, Ben; Vanlieferinghen, Philippe; Gershoni-Baruch, Ruth; Vieira, Marta W; Dumic, Miroslav; Auslender, Ron; Gil-da-Silva-Lopes, Vera L; Steinlicht, Simone; Rauh, Manfred // Nature Genetics; Feb2006, Vol. 38 Issue 2, p265
A correction to the article "Deficiency of UBR1: A Ubiquitin Ligase of the N-End Rule Pathway, Causes Pancreatic Dysfunction, Malformations and Mental Retardation," previously published in the article is presented.
- First in vivo evidence of microRNA-induced fragile X mental retardation syndrome.
Lin, S-L.; S-Je Chang; Ying, S-Y. // Molecular Psychiatry; Jul2006, Vol. 11 Issue 7, p616
A letter to the editor is presented in response to the article on micro-RNA-induced fragile X mental retardation syndrome published in a previous issue of the periodical.
- Establishing a high throughput sequencing service for mutation detection in several syndromic X-linked mental retardation genes.
Lin, S-L.; S-Je Chang; Ying, S-Y. // Journal of Medical Genetics; Sep2006 Supplement, Vol. 43, pS55
An abstract of the article "Establishing a high throughput sequencing service for mutation detection in several syndromic X-linked mental retardation genes," by James Drummond, H. Martin, L. Raymond and J. Whittaker is presented.
- Mental retardation and epilepsy: A study of six cases with the common polyalanine expansions in Exon 2 of the Aristaless-related homeobox gene (ARX) at Xp22.13.
Lin, S-L.; S-Je Chang; Ying, S-Y. // Journal of Medical Genetics; Sep2006 Supplement, Vol. 43, pS81
An abstract of the article "Mental retardation and epilepsy: A study of six cases with the common polyalanine expansions in Exon 2 of the Aristaless-related homeobox gene (ARX) at Xp22.13," by Moira J. MacDonald, L. P. Lazarou, L. Wilson, S. J. Davies, J. Hurst, T. McShane, A. Green and D. T....
- MLPA analysis of patients with classical lissencephaly reveals a high frequency of deletions.
Lin, S-L.; S-Je Chang; Ying, S-Y. // Journal of Medical Genetics; Sep2006 Supplement, Vol. 43, pS81
An abstract of the article "MLPA analysis of patients with classical lissencephaly reveals a high frequency of deletions," by Thalia Antoniadi, L. P. Lazarou, E. Robson, H. Duarte, I. M. Frayling and D. T. Pilz is presented.
- Breaking the silence in Rett syndrome.
Willard, Huntington F; Hendrich, Brian D // Nature Genetics; Oct99, Vol. 23 Issue 2, p127
Comments on an article on the genetics of Rett syndrome (RTT), published in the October 1999 issue of 'Nature Genetics.' Presence of several mutations in MECP2 in a proportion of RTT patients; Identification of RTT as one of growing number of human diseases involving abnormal chromatin assembly.
Willard, Huntington F; Hendrich, Brian D // Archives of Disease in Childhood; Mar2013, Vol. 98 Issue 3, p241
A correction to the article "De novo mutations and severe nonsyndromic intellectual disability" that was published in the previous issue of the periodical, is presented.
- The optimal time to clamp the umbilical cord.
Morley, G. M. // Archives of Disease in Childhood -- Fetal & Neonatal Edition; Jan2008, Vol. 93 Issue 1, pF77
A letter to the editor is presented in response to the article on the connection between immediate cord clamping (ICC) to childhood mental retardation (MR) that was published in the previous issue.
- Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
Sismani, Carolina; Armour, John AL; Flint, Jonathan; Girgalli, Christina; Regan, Regina; Patsalis, Philippos C // European Journal of Human Genetics; Jul2001, Vol. 9 Issue 7, p527
Subtelomeric chromosomal abnormalities are emerging as an important cause of human genetic disorders. The scope of this investigation was to screen a selected group of children with idiopathic mental retardation for subtelomeric anomalies using the multiprobe telomeric FISH method and also to...
- Changing lives.
Sismani, Carolina; Armour, John AL; Flint, Jonathan; Girgalli, Christina; Regan, Regina; Patsalis, Philippos C // Learning Disability Practice; Jul2012, Vol. 15 Issue 6, p5
The article reports the launch of two short films launched at the Royal College of Nursing (RCN) Congress demonstrating how specialist nurses change the lives of people with learning disabilities.
- Active support: enabling and empowering people with intellectual disabilities.
York, Michelle // British Journal of Occupational Therapy; Feb2012, Vol. 76 Issue 2, p116
The article reviews the book "Active Support: Enabling and Empowering People With Intellectual Disabilities," by Jim Mansell and Julie Beadle-Brown.
- The Changing Prevalence of Autism in California.
Croen, Lisa A.; Grether, Judith K.; Hoogstrate, Jenny; Selvin, Steve // Journal of Autism & Developmental Disorders; Jun2002, Vol. 32 Issue 3, p207
We conducted a population-based study of eight successive California births cohorts to examine the degree to which improvements in detection and changes in diagnosis contribute to the observed increase in autism prevalence. Children born in 1987-1994 who had autism were identified from the...
- INCIDENCE OF SAVANT SYNDROME IN FINLAND.
Saloviita, Timo; Ruusila, Liisa // Perceptual & Motor Skills; Aug2000, Vol. 91 Issue 1, p120
Explores the incidence of Savant Syndrome in Finland. Survey of facilities in Finland which served people with mental retardation; Relative frequency of types of exceptional skills, the most common form of which was calendar calculation and feats of memory.
- The truth about Down syndrome.
Saloviita, Timo; Ruusila, Liisa // Lakelander (Whitney, TX); 3/20/2013, Vol. 26 Issue 12, p2
A letter to the editor is presented in response to the article on Down syndrome in the March 2013 issue.
- INTERNATIONAL SCHOOL OF NEUROLOGICAL SCIENCES.
Saloviita, Timo; Ruusila, Liisa // Journal of Child Neurology; Jul2002, Vol. 17 Issue 7, p528
Presents information on several topics related to advances in the field of behavioral neurogenetics discussed in the 12th annual meeting of the Child Neurology Section of International School of Neurological Sciences held in Rome, Italy from September 27-28, 2002. Techniques for the genetic...
- Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity.
Basel-Vanagaite, L.; Alkelai, A.; Straussberg, R.; Magal, N.; Inbar, D.; Mahajna, M.; Shohat, M. // Journal of Medical Genetics; Oct2003, Vol. 40 Issue 10, p729
Objective: To identify and clinically evaluate four consanguineous families of Israeli Arab origin with nonsyndromic mental retardation (NSMR), comprising a total of 10 affected and 24 unaffected individuals. Participants and methods: All the families originated from the same small village and...
- An interaction of instructions and training design on stimulus class formation: Extending the...
Saunders, Kathryn J.; Saunders, Richard R. // Psychological Record; Fall93, Vol. 43 Issue 4, p725
Describes the results of studies designed to investigate variables that might influence the greater effectiveness of the comparison-as-node (CaN) procedure on subjects with mild mental retardation. Discrimination analysis of sample-as-node and CaN procedures; Role of instructions.
- New developments in the fragile X syndrome.
Moore, D.W. York // BMJ: British Medical Journal (International Edition); 7/25/92, Vol. 305 Issue 6847, p208
Focuses on the characteristics of fragile X syndrome. Form of familial mental retardation; Expression of the fragile X mutation; Diagnosis of the disease.
- Behavior in early treated phenylketonuria: a systemic review.
Smith, Isabel; Knowles, Julie // European Journal of Pediatrics. Supplement; 2000, Vol. 159, pS89
Presents a study which reviewed the published information on phenylketonuria in terms of behavior, psychiatric status and individual's perceptions of self, thoughts and feelings. Methods used to assess behavior in selected studies; Results of the study; Conclusions.
- Comments on the international collaborative study of maternal phenylketonuria status report 1998.
Lee, Philip J. // European Journal of Pediatrics. Supplement; 2000, Vol. 159, pS161
Comments on the international collaborative study of maternal phenylketonuria status report in 1998. Diet restriction of study participants.
- Summary of the roundtable discussion.
Burgard, Peter; Link, Reinhild; Schweitzer-Krantz, susanne // European Journal of Pediatrics. Supplement; 2000, Vol. 159, pA163
Presents a summary of reports on phenylketonuria patients during a roundtable and a general discussion. Cognition and intelligence of the patients; Behavior and academic achievements of patients; Neuropathology of mental retardation; Compliance of the patients in diet therapy.
- Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.
Schlotawa, Lars; Hotz, Alrun; Zeschnigk, Christine; Hartmann, Britta; Gärtner, Jutta; Morris-Rosendahl, Deborah // Journal of Neurology; Jun2013, Vol. 260 Issue 6, p1678
A letter to the editor is presented in which the authors discuss a case study of a male patient born to German parents who was diagnosed with cerebellar ataxia, mental retardation and dysequillibrium syndrome 1.
- Group Homes for People with Intellectual Disabilities: Encouraging Inclusion and Participation, Tim Clement and Christine Bigby, London, Jessica Kingsley, 2010, pp. 228, ISBN 9781 8431 0645 6 (pbk), Â£25.00.
Fyson, Rachel // British Journal of Social Work; Oct2010, Vol. 40 Issue 7, p2350
The article reviews the book "Group Homes for People With Intellectual Disabilities: Encouraging Inclusion and Participation," by Tim Clement and Christine Bigby.
- Ability of institutionalized and community-based adults with retardation to respond to questions...
Brinton, Bonnie; Fujiki, Martin // Journal of Speech & Hearing Research; Apr94, Vol. 37 Issue 2, p369
Examines the ability of adults with mild and moderate levels of retardation to respond to simple and complex questions. Background history on residential placement for individuals with mental retardation; Use of a conversational language sample; Scoring procedures; Analysis of variance with...
- Facial and digital clues.
Brinton, Bonnie; Fujiki, Martin // Patient Care; 1/30/1999, Vol. 32 Issue 2, p125
Presents a case report of a six-year-old white girl with mental and growth deficiencies and physical abnormalities. Lack of recognizable language; History of urinary tract infections in the mother and grandmother; Consistency of the physical findings with the description for Coffin-Siris syndrome.
- The Behavioral Profile of Severe Mental Retardation in a Genetic Mouse Model of Phenylketonuria.
Cabib, Simona; Pascucci, Tiziana; Ventura, Rossella; Romano, Valentino; Puglisi-Allegra, Stefano // Behavior Genetics; May2003, Vol. 33 Issue 3, p301
Pah[sup enu2] mice, created by chemically induced genetic mutation, are characterized by biochemical phenotypes closely resembling untreated human phenylketonuria (PKU). However, studies conducted in adult Pah[sup enu2] mice have shown no indices of the severe mental retardation that...
- Campaign to make the 'r' word unacceptable gathers momentum.
Cabib, Simona; Pascucci, Tiziana; Ventura, Rossella; Romano, Valentino; Puglisi-Allegra, Stefano // Learning Disability Practice; May2010, Vol. 13 Issue 4, p4
The article reports that the Special Olympics and the international learning disability group Best Buddies International are supporting a campaign which aims to end the use of the word retard in the U.S.
- Bone Mineral Density, Body Composition, and Muscle Strength in Premenopausal Women With Mental...
Felix, Manny; McCubbin, Jeff; Shaw, Janet // Adapted Physical Activity Quarterly; Oct1998, Vol. 15 Issue 4, p345
Many women with mild to moderate mental retardation (MMR) exhibit low levels of physical activity, muscle strength, and muscle mass, which place these individuals at risk for osteoporosis. Bone mineral density (BMD), the primary index of osteoporosis, of the femoral neck and the whole body was...
- Attitudes on Inclusion in a Regular Softball League.
Rizzo, Terry; Bishop, Paul // Adapted Physical Activity Quarterly; Oct1998, Vol. 15 Issue 4, p385
Presents an abstract of the article `Attitudes on Inclusion of a Player With Disabilities in a Regular Softball League,' written by M.E. Block, and M. Malloy which was published in the 1998 `Mental Retardation' periodical.
- 423. Increased Incidence of Hepatocellular Change and Neoplastic Disease in AAV-WPRE Treated Pahenu2 Mice.
Embury, Jennifer E.; Charron, Catherine E.; Laipis, Philip J. // Molecular Therapy; Jun2005, Vol. 11, p164
An abstract of the article "Increased Incidence of Hepatocellular Change and Neoplastic Disease in AAV-WPRE Treated Pahenu2 Mice," by Jennifer E. Embury, Catherine E. Charron and Philip J. Laipis is presented.
- The Clinical Significance of DG Heterozygosity: Literature Review and Meta-Analysis.
Creswick, H.; Barnes, M.; Lawson, L.; Proud, V. // Journal of Genetic Counseling; Dec2002, Vol. 11 Issue 6, p494
Discusses the abstract of the study 'The Clinical Significance of DG Heterozygosity: Literature Review and Meta-Analysis,' presented at the 21st Annual Education Conference of the National Society of Genetic Counselors held in Phoenix, Arizona in November 2002.
- Kristi -- My Sister.
Fessenden, Kate // 21st Century; Nov1999, Vol. 11 Issue 3, p16
A personal narrative is presented which explores the author's experience of defending her sister who was born mentally retarded with autistic characteristics against two lifeguards.
- Questionable pathogenicity of FOXG1 duplication.
Amor, David J; Burgess, Trent; Tan, Tiong Y; Pertile, Mark D // European Journal of Human Genetics; Jun2012, Vol. 20 Issue 6, p595
A letter commenting on researcher N. Brunetti-Pierri and colleagues report "Duplications of FOXG1 in 14q12 Are Associated With Developmental Epilepsy, Mental Retardation, and Severe Speech Impairment," published in the "Europen Journal of Human Genetics" is presented.
- American Journal of Human Genetics: Too much protein HUWE1 causes intellectual disability.
Amor, David J; Burgess, Trent; Tan, Tiong Y; Pertile, Mark D // Biomedical Market Newsletter; 8/28/2012, Vol. 21, p1
The article informs that intellectual disability is caused due to increased production of the HUWE1 protein.
- PROJECT Jimmy.
ZECK, SHERI // Guideposts; Apr2013, Vol. 68 Issue 2, p66
A personal narrative is presented which explores the author's experience of understanding disabled people to become a better person.
- Rattled with PTSD: Post Traumatic Snake Disorder.
Monroe, Irene // Bay Windows; 7/4/2013, Vol. 31 Issue 30, p6
The article presents the author's views on post traumatic snake disorder.
- Let's get rid of the 'R' word.
Clark, Karen Fox // St. Charles Journal; 8/21/2011, Vol. 46 Issue 67, pA7
In this article, the author discusses about the life of people with learning difficulties.
- THE OZARKS.
MARR, RON // Missouri Life; Aug2013, Vol. 40 Issue 4, p103
In this article, the author reflects his thought on self imposed idiocy of the society.
- RESEARCH AND THE RETARDED.
Pumphrey, Muriel W.; Goodman, Mortimer; Flax, Norman; Del Rosalno, Maria L.; Goldeaum, Richard I. // Social Work; Jul68, Vol. 13 Issue 3, p127
Presents a letter to the editor about children with mental disabilities.
- Leg Strength Is Related to Endurance Run Performance in Children and Adolescents With Mental Retardation.
Fernhall, Bo; Pitetti, Kenneth H. // Pediatric Exercise Science; Aug2000, Vol. 12 Issue 3, p324
Evaluates the interrelation between leg strength and endurance run performance in children and adolescents with mental retardation. Influence of gender on leg strength and endurance; Dependence of endurance run performance on maximal oxygen consumption; Improvement in endurance through strength...
- Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
Poirier, Karine; Francis, Fiona; Hamel, Ben; Moraine, Claude; Fryns, Jean Pierre; Ropers, Hans H.; Chelly, Jamel; Bienvenu, Thierry // European Journal of Human Genetics; May2005, Vol. 13 Issue 5, p523
Presents a letter to the editor about the association of mutations in exon 1 of MECP2B gene with X-linked mental retardation in males.