Genomes and Genes
Summary: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Publications243 found, 100 shown here
- Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxiaManuel Roig
Secció de Neurologia Infantil, Hospital Universitari Vail d Hebron, Barcelona, Spain
Dev Med Child Neurol 45:489-93. 2003..Intelligence or developmental quotients are within the normal range for their age. Facial hypomimia, feeding, and speech articulatory performance difficulties are the main disabilities observed in these patients at follow-up...
- West Nile virus-associated flaccid paralysisJames J Sejvar
Centers for Disease Control and Prevention, Atlanta, Georgia 30333, USA
Emerg Infect Dis 11:1021-7. 2005..A poliomyelitislike syndrome likely involving spinal anterior horn cells is the most common mechanism of WNV-associated paralysis and is associated with significant short- and long-term illness and death...
- A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)P Rump
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Clin Genet 79:183-8. 2011..G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases...
- Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signallingD Hanson
Paediatric Endocrinology, School of Biomedicine, Manchester Academic Health Sciences Centre, University of Manchester, Manchester M13 9WL, UK
J Mol Endocrinol 49:267-75. 2012..Dysregulation of the GH-IGF-IGF binding protein axis is a feature of 3-M syndrome...
- Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out miceKati Takaluoma
Collagen Research Unit, University of Oulu, FIN 90014, Finland
J Biol Chem 282:6588-96. 2007....
- A poliomyelitis-like syndrome from West Nile virus infectionA Arturo Leis
N Engl J Med 347:1279-80. 2002
- The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patientsManuela Galli
Bioeng Dept, Politecnico di Milano, P zza Leonardo da Vinci 32, 20133 Milano, Italy
Res Dev Disabil 32:1117-21. 2011..The results demonstrated that both PWS and EDS are characterized by a severe postural instability. Muscle hypotonia and weakness may account for reduced balance capacity...
- Neurologic manifestations and outcome of West Nile virus infectionJames J Sejvar
Division of Viral and Rickettsial Diseases, National Center for Infectious Diseases, and Epidemic Intelligence Service, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA
JAMA 290:511-5. 2003..The neurologic manifestations, laboratory findings, and outcome of patients with West Nile virus (WNV) infection have not been prospectively characterized...
- West Nile virus infection presenting as acute flaccid paralysis in an HIV-infected patient: a case report and review of the literatureMauro Torno
Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, CA, USA
Neurology 68:E5-7. 2007..We then review the medical literature on WNV infection occurring among patients who are infected with HIV. Unlike most of the cases reported in the literature, our patient had partial recovery of his neurologic deficits...
- A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotoniaRadek Szklarczyk
Centre for Molecular and Biomolecular Informatics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen 6500HB, The Netherlands
Hum Mol Genet 22:656-67. 2013..In this report, we describe a homozygous missense mutation in FAM36A from a patient who displays ataxia and muscle hypotonia. The FAM36A gene is a remote, putative ortholog of the fungal complex IV assembly factor COX20...
- Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?Nadia A Akawi
Faculty of Medicine and Health Sciences, Department of Pathology, United Arab Emirates University, Al Ain, United Arab Emirates
Am J Med Genet A 155:1236-45. 2011..As a result of these findings, we question the identity of the autosomal recessive SRS and suggest that all apparently recessive SRS families should be tested for mutations in CUL7 and OBSL1...
- A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
Nat Genet 39:451-3. 2007....
- Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functionsRuti Parvari
Department of Developmental Genetics and Virology and the National Institute of Biotechnology Negev, Ben Gurion University of the Negev, PO Box 653, Beer Sheva 84105, Israel
Eur J Hum Genet 15:997-8. 2007
- Using the two-source capture-recapture method to estimate the incidence of acute flaccid paralysis in Victoria, AustraliaKathryn Whitfield
Department of Human Services, Victorian Public Health Training Scheme, Melbourne, Australia
Bull World Health Organ 80:846-51. 2002..To estimate the incidence and the completeness of ascertainment of acute flaccid paralysis (AFP) in Victoria, Australia, in 1998-2000 and to determine its common causes among children aged under 15 years...
- Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 geneS M Tanner
Department of Clinical Research, Human Molecular Genetics, University of Berne, Switzerland
Hum Mutat 11:62-8. 1998..Moreover, pedigree analyses provide first information on de novo mutation frequency in this newly identified human disease gene...
- Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeBoris Utsch
Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, USA
Pediatr Nephrol 21:32-5. 2006..One patient had the association of JBTS and NPHP with chronic renal failure. This is the first report of AHI1 mutations causing JBTS associated with NPHP, confirming the clinical and genetic heterogeneity of NPHP...
- Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic featuresMehryar Taban
Department of Pediatric Ophthalmology and the Center for Genetic Eye Diseases, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
J AAPOS 11:431-7. 2007..To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases...
- Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI)Uluc Yis
Division of Child Neurology, Dokuz Eylul University School of Medicine, Department of Pediatrics, 35340 Izmir, Turkey
Neuromuscul Disord 18:210-4. 2008..We advocate the analysis of urinary pyridinolines in all infants with severe hypotonia which is highly specific and sensitive, quick and inexpensive...
- A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeastJ Laporte
Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS INSERM U LP, B P 163, C U de Strasbourg, France
Nat Genet 13:175-82. 1996..At least three other genes, one located within 100 kb distal from the MTM1 gene, encode proteins with very high sequence similarities and define, together with the MTM1 gene, a new family of putative tyrosine phosphatases in man...
- Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndromeB Chabrol
Reference Center for inborn metabolic disorders, CHU de Timone, Marseille, France
J Med Genet 45:314-8. 2008..The deletions differ in size and the number of genes involved. In HCS patients, only SLC3A1 and PREPL are disrupted. In the 2p21 deletion syndrome, two additional genes (C2orf34 and PPM1B) are lost...
- Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growthDan Hanson
Department of Endocrinology, Manchester Academic Health Sciences Centre, School of Biomedicine, University of Manchester, UK
Am J Hum Genet 89:148-53. 2011..We propose that CUL7, OBSL1, and CCDC8 are members of a pathway controlling mammalian growth...
- Poliomyelitis due to West Nile virusJonathan D Glass
N Engl J Med 347:1280-1. 2002
- Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA)Cecilia Giunta
Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
Am J Med Genet A 133:158-64. 2005....
- X-linked myotubular myopathy and chylothoraxKoenraad Smets
Department of Neonatology, Ghent University Hospital, De Pintelaan 185, B 9000 Ghent, Belgium
Neuromuscul Disord 18:183-4. 2008..As chylothorax could not be attributed to any evident condition in this child, perhaps it may be added to the clinical spectrum of X-linked myotubular myopathy...
- Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathyB M de Gouyon
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 6:1499-504. 1997..The low frequency of large deletions and the varied mutations identified suggest that direct mutation screening for molecular diagnosis may require gene sequencing...
- [Poliomyelitis eradication in Poland--assessment of the program implementation]Magdalena Rosinska
Zakład Epidemiologii Państwowego Zakładu Higieny ul Chocimska 24 00 791 Warszawa
Przegl Epidemiol 58:185-96. 2004..The quality of surveillance however is uneven on the sub-national level. Consequently, imported polio cases might be detected with delay. Continuation of enhanced AFP surveillance in Poland is warranted...
- Terminal 2q37 deletion and autistic behaviourT Lukusa
Genet Couns 16:179-80. 2005
- Cohen syndrome in the Ohio AmishMarni J Falk
Department of Pediatrics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, USA
Am J Med Genet A 128:23-8. 2004....
- Cerebellar hypoplasia-endosteal sclerosis: a long term follow-upHeval M Ozgen
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
Am J Med Genet A 134:215-9. 2005..We provide a short review of this probably autosomal recessively inherited disorder. (c) 2005 Wiley-Liss, Inc...
- [Neuroradiological aspects of Joubert syndrome: an analysis of two cases]E S Il'ina
Zh Nevrol Psikhiatr Im S S Korsakova 105:59-61. 2005
- Brain stem and cerebellar findings in Joubert syndromeIbrahim A Alorainy
Department of Radiology and Medical Imaging, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
J Comput Assist Tomogr 30:116-21. 2006..Awareness of the clinical and neuroimaging findings in Joubert syndrome and maintenance of a high index of suspicion are essential to correctly diagnose this rare congenital malformation...
- A report of three patients with an interstitial deletion of chromosome 15q24Lisa J Cushman
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, 46202, USA
Am J Med Genet A 137:65-71. 2005..Furthermore, we suggest that FISH analysis with a probe for the PML gene be performed in patients with these physical findings...
- Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndromeEleftheria Papadopoulou
Department of Pediatrics, University Hospital of Heraklion, University of Crete, Crete, Greece
Am J Med Genet A 146:2545-50. 2008..Antenatal and postnatal MRI findings suggest that our patient's PVL represents an unusual congenital feature of AOS, possibly due to vascular disruption and decreased perfusion during critical periods of fetal brain development...
- Joubert syndrome co-existing with partial Xp trisomy: review of the literatureG S Guven
Department of Medical Biology, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey
Genet Couns 15:321-8. 2004..Based on our proband's abnormal karyotype, we suggest that further mapping studies for the syndrome should also be directed towards the chromosome X segments present on the derivative chromosome 2 of our proband...
- Further delineation of the 22q13 deletion syndromeS G Lindquist
The John F Kennedy Institute, Glostrup, Denmark
Clin Dysmorphol 14:55-60. 2005..The deletions varied in size, extending from 4.0 to 9.0 Mb. The clinical phenotype seemed rather similar although some specific features might be attributable to differences in deletions...
- A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino
Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
Eur J Hum Genet 12:797-804. 2004..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome...
- A new case of Okamoto syndromeRobert Wallerstein
Genetics Service, Joseph M Sanzari Children s Hospital, Hackensack University Medical Center, Hackensack, New Jersey, USA
Clin Dysmorphol 14:85-7. 2005..Our patient also had idiopathic splenomegaly and non-specific MRI changes in the brain, not reported in the first two cases...
- [Muscular hypotonia, developmental retardation, speech delay and mildly dysmorphic features: 22q13 deletion syndrome (Phelan-McDermid Syndrome) as an important differential diagnosis]S Strenge
Klin Padiatr 220:318-20. 2008..We present the clinical phenotype of the 22q13 deletion syndrome - also known as Phelan-McDermid syndrome - and show the diagnostic options...
- Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three childrenFarah Zahir
Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
J Med Genet 44:556-61. 2007..All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies...
- Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individualsKari A Casas
Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
Am J Med Genet A 130:331-9. 2004..Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling...
- Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprintingDieter Kotzot
Institute of Medical Biology and Human Genetics, Medical University of Innsbruck, Schoepfstr 41, A 6020 Innsbruck, Austria
Ann Genet 47:251-60. 2004..Totally, the variable phenotype of upd(14)mat is mainly the consequence of trisomy mosaicism and genomic imprinting. Rare traits might be due to homozygosity of autosomal recessively inherited mutations...
- Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literatureMeng Luen Lee
Int J Cardiol 96:477-80. 2004
- Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisationDavid A Koolen
1Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Eur J Hum Genet 13:1019-24. 2005....
- Long-term neuromotor outcome at school entry of infants with congenital heart defects requiring open-heart surgeryAnnette Majnemer
School of Physical and Occupational Therapy, Department of Neurology and Neurosurgery, McGill University, Toronto, Ontario, Canada
J Pediatr 148:72-7. 2006..This prospective study was conducted to investigate whether or not neuromotor impairments evident acutely persist long-term...
- Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndromeElke Wühl
Department of Pediatric Nephrology, University Children s Hospital, Heidelberg, Germany
Am J Med Genet A 143:311-9. 2007..This is an important issue in the counseling of parents of an affected newborn or infant...
- Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 yearsUlrike Gamerdinger
Institute of Pathology, University Medical Centre of Giessen and Marburg, Giessen, Germany
Am J Med Genet A 146:1180-4. 2008..By analyses with FISH and short tandem repeat markers, the interstitial deletion was confirmed and characterized to span 9q31.2q33.1, comprising at least 7.07 Mb. The aberration is of paternal origin...
- Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab familyLihadh Al-Gazali
Department of Paediatrics, Faculty of Medicine and Health Sciences, Al Ain, UAE
Clin Dysmorphol 16:105-7. 2007..Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome...
- Approaches to neurodevelopmental assessment in congenital diaphragmatic hernia survivorsCatherine Chen
Department of Surgery, Children s Hospital, Boston, MA 02115, USA
J Pediatr Surg 42:1052-6; discussion 1056. 2007....
- Genitourinary anomalies of pediatric FG syndromeJames F Smith
Division of Urology, University of Utah, Salt Lake City, Utah, USA
J Urol 178:656-9. 2007..This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations...
- Filamin A mutation is one cause of FG syndromeSheila Unger
Institute for Human Genetics, University of Freiburg, Freiburg, Germany
Am J Med Genet A 143:1876-9. 2007..Filamin A studies in other children with FG syndrome would help to confirm this association...
- Joubert syndrome: a major brain malformationJaydeb Ray
Department of Paediatrics, The Institute of Child Health, Kolkata
J Indian Med Assoc 105:392-4. 2007..MRI revealed characteristic "molar tooth" appearance of superior cerebellar peduncles. This case is unusual as it was diagnosed in early infancy...
- Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onsetMarc Bitoun
Institut National de la Sante et de la Recherche Medicale, U582, Institut de Myologie, Paris, France
Ann Neurol 62:666-70. 2007..Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype...
- Reticulate vascular lesions and a large headMarco Castori
IRCCS C S S San Giovanni Rotondo and C S S Mendel Institute, Rome, Italy
Pediatr Dermatol 24:555-6. 2007
- Neurological complications of cardio-facio-cutaneous syndromeGrace Yoon
Department of Pediatrics, Division of Medical Genetics, The Hospital for Sick Children, University of Toronto, Canada
Dev Med Child Neurol 49:894-9. 2007..Seizures were present in 15 participants. No specific genotype-phenotype correlation was observed...
- De novo duplication of chromosome 13(q32-q34) in a child with developmental delayDonatella Milani
Department of Pediatrics, Fondazione Ospedale Maggiore, Mangiagalli e Regina Elena, Milan, Italy
J Child Neurol 21:1084-5. 2006..This cytogenetic abnormality is rarely described in the literature. The description of our patient's characteristics might contribute to a better phenotype definition...
- Hereditary hypotonia, muscle weakness, failure to thrive, and cognitive delay in a large moslem kindredMiriam Kutai
Neuropediatric Clinic, Ha Emek Medical Center, Afula, Israel
Pediatr Neurol 35:425-9. 2006..Laboratory evaluation including muscle biopsies, genetic studies, and metabolic evaluation was nondiagnostic...
- Phenylketonuria in pediatric neurology practice: a series of 146 casesKalbiye Yalaz
Hacettepe University, Ankara, Turkey
J Child Neurol 21:987-90. 2006....
- Allan-Herndon-Dudley syndromeSanjay Verma
Department of Pediatrics, University College of Medical Science and Guru Teg Bahadur Hospital, Delhi, India
Indian J Pediatr 75:402-4. 2008..We report a child with classical clinical features along with confirmatory deranged thyroid levels in blood...
- Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndromeEva Morava
Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
Am J Med Genet A 140:752-6. 2006..Neurological deterioration is a commonly observed feature in mitochondrial disorders. Based on the unique combination of the clinical symptoms, we suggest that our patients have the Brooks-Wisniewski-Brown syndrome...
- Non-polio AFP rate and polio eradicationPaul T Francis
Indian Pediatr 45:422-3. 2008
- Congenital indifference to pain and deletion of chromosome 10q-: new associationCharuta Joshi
Department of Pediatrics, University of Manitoba, Winnipeg, Canada
J Child Neurol 21:174-7. 2006..Relative indifference to pain defined by a lack of emotional response to pain has not been described previously in association with the terminal deletion of the long arm of chromosome 10...
- [3M syndrome: case history]P Fehlow
Ehem Bezirkskrankenhaus für Psychiatrie und Neurologie, Mühlhausen Thüringen
Klin Padiatr 218:287-91. 2006..This case report shall draw attention to a still little known syndrome of primordial nanism. It is important for the differential diagnosis on the genetic counselling, specially with regard to the Silver-Russell syndrome...
- Role of EMG in congenital hypotonia with favorable outcomeFrancesco Pisani
Child Neuropsychiatric Unit, Pediatrics Department, University of Parma, Parma, Italy
Acta Biomed 76:171-4. 2005....
- Polioviruses and other enteroviruses isolated from faecal samples of patients with acute flaccid paralysis in Australia, 1996-2004Heath Kelly
Epidemiology Unit, Victorian Infectious Diseases Reference Laboratory, Melbourne, Victoria, Australia
J Paediatr Child Health 42:370-6. 2006..This study aims to review the significance of all enteroviruses, including polioviruses, isolated from patients with AFP in Australia between 1996 and 2004...
- Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactylyTiziana Pisano
Division of Child Neurology and Psychiatry, Azienda Ospedaliero Universitaria di Cagliari, Cagliari, Italy
J Child Neurol 23:916-8. 2008..At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal...
- Neuhauser syndrome and Peters' anomalyCoskun Yarar
Department of Pediatrics, Osmangazi University, Faculty of Medicine, Eskisehir, Turkey
Clin Dysmorphol 15:249-51. 2006..To the best of our knowledge, Peters' anomaly has not been reported in Neuhauser syndrome previously...
- Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotypeMarielle E M Swinkels
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen Centre of Molecular Life Sciences, Nijmegen, The Netherlands
Am J Med Genet A 146:1430-8. 2008..Sequence analysis of this gene in nine additional patients with isolated trigonocephaly did not reveal any pathogenic mutations...
- When needs are specialGinny Paleg
University of Maryland, USA
Rehab Manag 20:24, 26-7. 2007
- Neuroepithelial cysts in a patient with Joubert syndrome plus renal cystsSarah E Marsh
Department of Neurosciences, University of California, San Diego, USA
J Child Neurol 19:227-31. 2004..Our data suggest that neuroepithelial cysts occur in conjunction with Joubert syndrome associated with kidney cysts...
- [Two cases of Costello syndrome]Tatsuo Masuyama
Department of Pediatrics, Saga Seishigakuen Handicapped Children s Hospital, Saga
No To Hattatsu 35:49-53. 2003..Both cases had atrial fibrilation from infancy to early childhood. One patient had hypertonia in the lower extremities and pes equinovarus, while the other had hypotonia and pes planovalgus...
- Potocki-Shaffer syndrome: report of one caseWei Hsin Chien
Department of Pediatrics, Taipei Municipal Ho Ping Hospital, Taipei, Taiwan
Acta Paediatr Taiwan 44:242-5. 2003..Despite previous negative chromosome study, positive family history with two similarly affected elder siblings and the finding of bilateral parietal foraminae finally lead to the etiologic diagnosis...
- Further delineation of the chromosome 14q terminal deletion syndromeClara D M van Karnebeek
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Am J Med Genet 110:65-72. 2002....
- Mechanisms of myopia in Cohen syndrome mapped to chromosome 8q22Paula Summanen
Department of Ophthalmology, Department of Pediatrics, Helsinki University Central Hospital, Haartmaninkatu 4C, PL 220, FIN 00029 HUS Helsinki, Finland
Invest Ophthalmol Vis Sci 43:1686-93. 2002..To analyze the mechanisms of myopia in Cohen syndrome (Mendelian Inheritance in Man [MIM] no. 216550)...
- A second family with Micro syndromeG RodrIguez Criado
Unidad de Dismorfología, Infantil Universitario Virgen del Rocio, Sevilla, Spain
Clin Dysmorphol 8:241-5. 1999..No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome...
- Recognition of the clinical signs and symptoms of Joubert syndromeLinda Merritt
North Texas Hospital for Children at Medical Coty, Dallas, TX 75230, USA
Adv Neonatal Care 3:178-86; quiz 187-8. 2003..A discussion of the range of developmental outcomes and complex multispecialty care and intensive support that these infants and their families require is also provided...
- Poliomyelitis surveillance in Shandong Province, China, 1990-92Y Chiba
Department of EPI, Shandong Provincial Epidemic Prevention Station, Jinan, China
Bull World Health Organ 72:915-20. 1994..As the prevalence of wild poliovirus declines in China, reliable laboratory support needs to be established and adequately sensitive and specific AFP surveillance be developed if poliomyelitis is to be eradicated...
- Cohen syndrome with insulin resistance and seizureMehmet Emre Atabek
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey
Pediatr Neurol 30:61-3. 2004..We report a patient manifesting the typical characteristics of Cohen syndrome with seizure and hyperinsulinemia...
- Poliomyelitis in Oman: acute flaccid paralysis surveillance leading to early detection and rapid response to a type 3 outbreakS E Robertson
Global Programme for Vaccines and Immunization, World Health Organization, Geneva, Switzerland
Bull World Health Organ 72:907-14. 1994..Because AFP surveillance detected these cases rapidly, Oman was able to carry out outbreak control measures promptly and more than 350,000 extra doses of oral poliovirus vaccine were delivered to children under 6 years of age...
- X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndromeG S Salomons
VU Medical Center, Metabolic Unit, Department of Clinical Chemistry, 1081 HV Amsterdam, The Netherlands
Am J Hum Genet 68:1497-500. 2001..The three female relatives were heterozygous for this mutation in SLC6A8, which has been mapped to Xq28...
- Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian familyGiulio Piluso
Dipartimento di Patologia Generale, Facolta di Medicina e Chirurgia, Seconda Universita degli Studi di Napoli, Via Luigi De Crecchio 7, 80138 Naples, Italy
Hum Genet 112:124-30. 2003..66 (recombination fraction=0) for markers between DXS8113 and sWXD805. This new locus for FG syndrome corresponds to a region of approximately 4.6 Mb on the X chromosome...
- Developmental coordination disorder: is clumsy motor behavior caused by a lesion of the brain at early age?Mijna Hadders-Algra
Department of Neurology Developmental Neurology, University of Groningen, Groningen, The Netherlands
Neural Plast 10:39-50. 2003..In line with this idea is the finding that complex MND shows a strong correlation with attention and learning problems...
- Anaesthetic management in a case of Kabuki syndromeA I Casado
Eur J Anaesthesiol 21:162-3. 2004
- [Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers]V Smolka
Detská klinika LF UP a FN, Olomouc
Cas Lek Cesk 140:732-5. 2001..Serious hematological, metabolic and neurological complications owing to the nutritional deficiency of vitamin B12 may occur in infants of mothers on a strict vegetarian diet...
- Gamma-aminobutyric acid-mediated neurotransmission in the pontine reticular formation modulates hypnosis, immobility, and breathing during isoflurane anesthesiaGiancarlo Vanini
Department of Anesthesiology, University of Michigan, Ann Arbor, Michigan 48109, USA
Anesthesiology 109:978-88. 2008....
- [Syncope in children and adolescents]Andrzej Rudzinski
Klinika Kardiologii Dzieciecej, Uniwersytet Jagielloński Collegium Medicum w Krakowie
Przegl Lek 64:76-9. 2007..Further specialist tests depend on preliminary findings...
- Acid sphingomyelinase deficiency in Beckwith Wiedemann syndromeL A Réthy
Department of Paediatrics, Semmelweis University, Budapest, Hungary
Pathol Oncol Res 6:295-7. 2000..DNA-studies by region specific markers as well as mutational analysis for the most common NPD-mutations are planned in the future. This is the first report on the simultaneous occurrence of BWS and ASM-deficiency...
- [A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]P Muller
HELIOS Krankenhaus Leisnig, Abteilung für Kinder und Jugendmedizin, Leisning
Klin Padiatr 219:361-7. 2007..Patients present with megaloblastic anemia, failure to thrive and various neurological manifestations including mental retardation, cerebral atrophy, muscular hypotonia or hypertonia, ataxia, seizures, nystagmus and visual disturbances...
- Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangementOleg A Shchelochkov
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Mol Cytogenet 1:16. 2008..The cell line carrying the deletion of Xp could have then stabilized through self-circularization and formation of the ring X chromosome...
- In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8Kirsten E Erger
Department of Pediatrics, Powell Gene Therapy Center, University of Florida, Gainesville, FL 32610, USA
J Gene Med 9:462-9. 2007..ATR functions within the mitochondria matrix in the final conversion of cobalamin into coenzyme B(12), adenosylcobalamin (AdoCbl). AdoCbl is a required coenzyme for the mitochondrial enzyme methylmalonyl-CoA mutase (MCM)...
- Decentralization of superior cervical ganglia attenuates heat stroke formation in rabbitsM T Lin
Department of Physiology, National Cheng Kung University, Medical College, Tainan, Taiwan, Republic of China
Chin J Physiol 33:247-53. 1990..The data suggest that decentralization of the superior cervical ganglia attenuates formation or development of heat stroke by promoting an increase in cerebral blood flow in rabbits...
- Classical galactosaemia revisitedAnnet M Bosch
Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Centre G8 205, University Hospital of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
J Inherit Metab Dis 29:516-25. 2006..hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycaemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract...
- Comparison of short- and long-acting benzodiazepine-receptor agonists with different receptor selectivity on motor coordination and muscle relaxation following thiopental-induced anesthesia in miceMamoru Tanaka
Division of Pharmacy, Ehime University Hospital, Toon, Ehime, Japan
J Pharmacol Sci 107:277-84. 2008....
- Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionYong hui Jiang
Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
BMC Genomics 9:50. 2008..Taking advantage of the human genome sequence, we have performed extensive sequence analysis and molecular studies for the PWS candidate region...
- Centronuclear (myotubular) myopathyHeinz Jungbluth
Department of Paediatric Neurology, Neuromuscular Service, Evelina Children s Hospital, St Thomas Hospital, London, UK
Orphanet J Rare Dis 3:26. 2008..Whereas the X-linked form due to MTM1 mutations is often fatal in infancy, dominant forms due to DNM2 mutations and some cases of the recessive BIN1-related form appear to be associated with an overall more favourable prognosis...
- A newborn with severe liver failure, cardiomyopathy and transaldolase deficiencyN M Verhoeven
Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands
J Inherit Metab Dis 28:169-79. 2005..Discovery of this second patient affected with transaldolase deficiency and liver failure suggests that this disorder has a heterogeneous clinical presentation with highly variable severity...
- Congenital hypothyroidism clinical aspects and late consequencesAtilla Buyukgebiz
Dokuz Eylül Faculty of Medicine, Department of Pediatric Endocrinology and Adolescence Inciralti, Izmir, Turkiye
Pediatr Endocrinol Rev 1:185-90; discussion 190. 2003..Still a small number of patients with severe hypothyroidism in utero or reflected by clinical signs and symptoms extremely low T4 levels and delayed bone age may have intellectual deficits despite normal intelligence...
- Regulation of hind-limb tone by adenosine A2A receptor in ratsY N Wu
Institute of Biomedical Engineering, National Cheng Kung University, Tainan, Taiwan
Neuroscience 159:1408-13. 2009..tone, with some reports indicating an increase, while other data suggest that A2A catalepsy is dominated by muscle hypotonia. We investigated the effect on resistance to imposed movements of systemic cataleptic doses of the selective ..
- [Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome]Fanny Cortés M
Unidad de Genética y Enfermedades Metabólicas, INTA, Universidad de Chile, Santiago, Chile
Rev Med Chil 133:33-41. 2005..Seventy to seventy five percent of PWS cases are due to 15q11q13 deletions, 20-25% to uniparental disomy and 1% to mutations in the imprinting center...
- Osteogenesis imperfecta: determining the demographics and the predictors of death from an inpatient populationMichael G Vitale
Pediatric Orthopaedic Surgery, Morgan Stanley Children s Hospital of New York Presbyterian, Columbia University Medical Center, New York, NY, USA
J Pediatr Orthop 27:228-32. 2007....
- Familial factors and hearing impairment modulate the neuromotor phenotype in Turner syndromeFritz Haverkamp
University Children s Hospital, Adenauerallee 119, 53113 Bonn, Germany
Eur J Pediatr 162:30-5. 2003..syndrome (TS), an X-chromosomal anomaly characterised by total or partial loss of the second X-chromosome, muscle hypotonia, and lower proficiency in fine and gross motor skills have been described...
- Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissueEdmar Zanoteli
Department of Genetics, St Jude Children s Research Hospital, Memphis, TN 38105, USA
Biochim Biophys Acta 1802:659-72. 2010..Osteoskeletal deformities and muscle hypotonia have been described in patients with sialidosis...
- NFAT Signaling and Down SyndromeGerald R Crabtree; Fiscal Year: 2012..We will test this hypothesis and if correct find molecule that correct the balance and thereby develop new treatments for some of the disabling characteristics of Down Syndrome. ..
- RNA editing-mediated modulation of serotonin 2C receptor protein expressionRANDI JO ULBRICHT; Fiscal Year: 2011..Our novel findings have the potential to redefine research, diagnosis and treatment of 5HT2C-related disorders including schizophrenia, depression, anxiety and addiction. ..
- CRAC Channel Deficiency in Immunity to InfectionStefan Feske; Fiscal Year: 2013..Understanding the role of calcium influx for immune responses is essential to assess the therapeutic potential of CRAC channel inhibition as a treatment for autoimmune and allergic diseases in the future. ..
- Neuro-inflammation and treatment in GM2 gangliosidosisStephanos Kyrkanides; Fiscal Year: 2007..With this more of therapy we anticipate a resolution of GM2 storage and neuro-inflammation ultimately leading to amelioration of the clinical phenotype of the disease. ..
- MOUSE MODELS TO STUDY MULIBREY NANISMJuan Zapata; Fiscal Year: 2005..glands with consequent hormonal deficiency, constrictive pericardium, hepatomegaly, hydrocephaloid skull, muscle hypotonia and susceptibility to develop ovarian and Wilm's tumors...
- THE USE OF ELECTROACUPUNCTURE TO MODULATE AROUSALEdgar Garcia Rill; Fiscal Year: 2002..However, the optimal stimulation sites and paradigms muse be identified and proven effective, first, in control populations, and later, in pathological populations. ..
- Characterization of Familial Myopathy & Paget DiseaseVirginia Kimonis; Fiscal Year: 2005..Elucidation of the genetic defect will help us understand the pathogenesis of this multifaceted disorder and hopefully result in specific therapy. ..
- MITOCHONDRIAL DNA ANALYSIS IN CYCLIC VOMITING SYNDROMERichard Boles; Fiscal Year: 2002..An extensive amount of clinical and laboratory data will be collected in all patients, allowing for the comparison of CVS sufferers with and without mtDNA mutations. ..
- Alzheimer's Disease in Down Syndrome: Antioxidant TrialIra Lott; Fiscal Year: 2005..The pilot trial should also contribute information as to the possible role of antioxidants in the treatment or prevention of AD in the general population. ..
- Childhood Motor Impairment and Assisted CommunicationTerence Sanger; Fiscal Year: 2004....
- CARDIOVASCULAR CONCOMITANTS OF ULTRASONIC VOCALIZATIONSMark Blumberg; Fiscal Year: 2002..Through these approaches, an integrated view of the varied mechanisms by which infant and adult mammals regulate cardiovascular function during physiological and behavioral challenges will emerge. ..
- Web-based Sleep Research Protocols and StandardsMichael Chase; Fiscal Year: 2004..It will also provide an infrastructure for the development of interactions and linkages between basic and clinical areas of investigation...
- Insulin Resistance and ABCA1 Transporter FunctionWILLIAM GARVER; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- CNS Sites Mediating Cognition and Mood: Impact of ApneaMichael Chase; Fiscal Year: 2008..These studies will therefore provide a foundation for the development of therapeutic treatments for Obstructive Sleep Apnea, including the neurocognitive and mood disorders that occur as a consequence of this pathology. ..
- Behavioral state development in infantsMark Blumberg; Fiscal Year: 2009..abstract_text> ..
- Neurobehavioral Effects of Insecticide Exposure in Pregnancy and Early ChildhoodKimberly Yolton; Fiscal Year: 2010....
- GENE CAUSING PAGET & LIMB-GIRDLE MUSCULAR DYSTROPHYVirginia Kimonis; Fiscal Year: 2003..Delineation of the genetic component responsible for the LGMD/PDB phenotype should promise similar insight and facilitate in the design of novel treatment protocols for the two disorders. ..
- Genetic basis of myopathy with Paget disease of boneVirginia Kimonis; Fiscal Year: 2008..e. effect on ATPase activity, protein-protein interactions, and hexamer formation). Study the VCP specific pathways in C2C12 cell lines (stably transfected wt and R155H VCP) during differentiation and under stress conditions...
- Arm Kinematics in Hyperkinetic Cerebral PalsyTerence Sanger; Fiscal Year: 2005..Hlatky will guide the design and implementation of clinical trials and outcome measure validation. The proposal includes coursework in cellular and molecular neurobiology and in the design of clinical research studies. ..
- Neurotransmitter Control of Sleep and WakefulnessMichael Chase; Fiscal Year: 2005..abstract_text> ..
- Androgen effect on motor/cognitive outcome in Klinefelter syndromeJudith L Ross; Fiscal Year: 2010..If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. ..
- Brainstem Regulation of Active Sleep and WakefulnessMichael Chase; Fiscal Year: 2007..that these data will be directly applicable to the development of rational therapies for the treatment of sleep and waking disorders that arise as a result of the pathological functioning of these neuronal mechanisms ..
- Ventral Mesopontine Junction and Motor ActivityYuan Yang Lai; Fiscal Year: 2006..This proposed work is of critical importance for the understanding of RLS/PLMD, RBD and other motor pathologies of sleep and for the design of therapeutic strategies to reverse these disorders. ..
- ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROMEJudith Ross; Fiscal Year: 2007..In addition, these data will help determine how to optimize cognitive function in Turner syndrome and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
- X-Linked Mental Retardation-LinkageCharles Schwartz; Fiscal Year: 2006..In summary, this represents a unique study that combines a variety of methodologies and disciplines in order to better understand the role of genes on the X chromosome in brain development and function. ..
- Neural control of abnormal movementTerence Sanger; Fiscal Year: 2006..unreadable] [unreadable] [unreadable]..
- Circadian and Aminergic Regulation of Orexin NeuronsTHOMAS SCAMMELL; Fiscal Year: 2005....
- Exploration of ETS Effects on Child Behavior and SleepKimberly Yolton; Fiscal Year: 2005..abstract_text> ..
- GENETICS OF COGNITION IN ADULT TURNER SYNDROMEJudith Ross; Fiscal Year: 2005..Characterization of specific TS causative genes would provide insight into the pathophysiology of 45,X, Turner syndrome, as well as the process of normal neurocognitive development. ..
- NIH Task Force on Childhood Motor DisordersTerence Sanger; Fiscal Year: 2006..The ultimate objective is to improve the functional abilities and societal participation of children with motor disorders. ..
- Lesch-Nyhan disease: dissecting the functions of HGprtHYDER JINNAH; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Graduate Medical Education in GeneticsMargaret McGovern; Fiscal Year: 2004..abstract_text> ..
- SLEEP MECHANISMS IN THE AGED CATMichael Chase; Fiscal Year: 2003....
- STATE DEPENDENT CONTROL OF MOTORNEURON ACTIVITYMichael Chase; Fiscal Year: 2004..abstract_text> ..
- ADENOSINE AND THE PREOPTIC REGULATION OF SLEEPTHOMAS SCAMMELL; Fiscal Year: 2002..These studies will provide important insights into the pre-optic and basal forebrain sites and mechanisms through which AD induces sleep. ..
- TRAINING WORKSHOP IN BASIC SLEEP RESEARCHMichael Chase; Fiscal Year: 2003..In addition, the Workshops will include special sections dealing with ethics and grantsmanship; they will also provide a wide range of instruction on basic animal research and basic human research. ..
- INFRASTRUCTURE FOR RESEARCH ON MENTAL DISABILITIESRoger Stevenson; Fiscal Year: 2003....