Genomes and Genes
Experts and Doctors on syndrome in Toronto, Ontario, Canada
Locale: Toronto, Ontario, Canada
- Patel M, Taylor G, Bharya S, Al Sanna a N, Adatia I, Chitayat D, et al. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. Am J Med Genet A. 2004;129A:294-9 pubmed..These findings suggest a unifying pathogenic mechanism for the abnormalities seen in AOS. These and previously reported cases establish that a subset of AOS patients is at high risk for PH. ..
- Cheung M, Rachlis A, Shumak S. A cryptic cause of cryptococcal meningitis. CMAJ. 2003;168:451-2 pubmed..Immunodeficiency can exist in the absence of laboratory evidence of HIV infection, highlighting the importance of evaluating T-cell subsets in patients who present with unusual infections. ..
- Bahar I, Kaiserman I, Buys Y, Rootman D. Descemet's stripping with endothelial keratoplasty in iridocorneal endothelial syndrome. Ophthalmic Surg Lasers Imaging. 2008;39:54-6 pubmed
- Adatia F, Sheidow T. Central retinal artery occlusion as the initial ophthalmic presentation of Susac's syndrome. Can J Ophthalmol. 2004;39:288-91 pubmed
- Bassett A, Marshall C, Lionel A, Chow E, Scherer S. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet. 2008;17:4045-53 pubmed publisher..2DS. The results reinforce the need for further efforts to identify specific molecular mechanisms underlying this expression and to identify the 1% of patients with schizophrenia who carry 22q11.2 deletions. ..
- Rohrbach M, Chitayat D, Maegawa G, Shanske S, Davidzon G, Chong K, et al. Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence. Fetal Diagn Ther. 2009;25:177-82 pubmed publisher..Further research is needed to find if the SEPCs detected in our patient is an association or a coincidental finding. ..
- Avcin T, Tse S, Schneider R, Ngan B, Silverman E. Macrophage activation syndrome as the presenting manifestation of rheumatic diseases in childhood. J Pediatr. 2006;148:683-6 pubmed..Immunohistochemical studies in the patient with SLE demonstrated extensive expression of CD163 on hemophagocytic macrophages, suggesting a possible role as a marker of MAS. ..
- Gupta A, Porges A. Hypersensitivity syndrome reaction to oral terbinafine. Australas J Dermatol. 1998;39:171-2 pubmed..Prompt recognition and determination of the extent of systemic involvement is important for the proper management of the patient. ..
- Gundogan M, Fong K, Keating S, Pierre Louis J, Chitayat D. First trimester ultrasound diagnosis of lethal multiple pterygium syndrome. Fetal Diagn Ther. 2006;21:466-70 pubmed..Increased nuchal translucency, absent limb movements, multiple joint contractures and cutaneous webs on US allowed the diagnosis of lethal multiple pterygium syndromes in the first trimester of pregnancy. ..
- Winston P, Awan R, Cassidy J, Bleakney R. Clinical examination and ultrasound of self-reported snapping hip syndrome in elite ballet dancers. Am J Sports Med. 2007;35:118-26 pubmed..Self-reported snapping is likely to be palpable by the clinician. Iliotibial band snapping is evident by physical examination and ultrasound. Iliopsoas snapping was most common and required ultrasonic confirmation. ..
- Day G, High S, Cot B, Tang Wai D. Anti-NMDA-receptor encephalitis: case report and literature review of an under-recognized condition. J Gen Intern Med. 2011;26:811-6 pubmed publisher..These cases underscore the need for increased awareness and high diagnostic suspicion when approaching the patient with suspected viral encephalitis. ..
- Dietschy T, Shevelev I, Stagljar I. The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress. Cell Mol Life Sci. 2007;64:796-802 pubmed
- Gerretsen P, Kern R. Reversible cerebral vasoconstriction syndrome or primary angiitis of the central nervous system?. Can J Neurol Sci. 2007;34:467-77 pubmed..Early reversibility of cerebral vasospasm is the key neuroradiological feature that supports the clinical diagnosis of RCVS. ..
- Rujkijyanont P, Adams S, Beyene J, Dror Y. Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing. Br J Haematol. 2009;145:806-15 pubmed publisher..Importantly we also found dysregulation of multiple genes involved in rRNA transcription and pre-rRNA processing. We conclude that SDS marrow cells exhibit major dysregulation of RP, RNA processing and RNA transcription genes. ..
- Cytrynbaum C, Smith A, Rubin T, Weksberg R. Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Curr Opin Pediatr. 2005;17:740-6 pubmed..New developments in our understanding of the molecular basis and phenotypic expression of overgrowth syndromes provide additional tools in this often challenging process. ..
- Kerr E, Ellis L, Dupuis A, Rommens J, Durie P. The behavioral phenotype of school-age children with shwachman diamond syndrome indicates neurocognitive dysfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. J Pediatr. 2010;156:433-8 pubmed publisher..There is a need for a broad-based approach to the assessment of cognitive function and appropriate remediation of individuals with SDS. ..
- Li K, Thorne C. Adult presentation of Stickler syndrome type III. Clin Rheumatol. 2010;29:795-7 pubmed publisher..In particular, early-onset OA or an unrecognized skeletal dysplasia can be considered as rationale for genetic testing, screening, and surveillance of both past and present family members of an affected patient. ..
- Filmus J, Capurro M. The role of glypican-3 in the regulation of body size and cancer. Cell Cycle. 2008;7:2787-90 pubmed..Finally, we propose an explanation for the tissue-specific function of GPC3. ..
- Gerretsen P, Kern R. Reversible cerebral vasoconstriction syndrome: a thunderclap headache-associated condition. Curr Neurol Neurosci Rep. 2009;9:108-14 pubmed..RCVS can present in conjunction with hypertensive encephalopathy, preeclampsia, and reversible posterior leukoencephalopathy. This review provides an up-to-date account of RCVS. ..
- Rilstone J, Alkhater R, Minassian B. Brain dopamine-serotonin vesicular transport disease and its treatment. N Engl J Med. 2013;368:543-50 pubmed publisher..Treatment with levodopa was associated with worsening, whereas treatment with direct dopamine agonists was followed by immediate ambulation, near-complete correction of the movement disorder, and resumption of development. ..
- Azimi C, Kennedy S, Chitayat D, Chakraborty P, Clarke J, Forrest C, et al. Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A. 2003;117A:127-35 pubmed..An investigation to delineate the underlying cause of trigonocephaly is indicated because of its important implications on medical management for the patient and the reproductive plans for the family...
- Feuk L, Kalervo A, Lipsanen Nyman M, Skaug J, Nakabayashi K, Finucane B, et al. Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia. Am J Hum Genet. 2006;79:965-72 pubmed..Our results indicate that absence of paternal FOXP2 is the cause of DVD in patients with SRS with maternal UPD7. The data also point to a role for differential parent-of-origin expression of FOXP2 in human speech development...
- Rujkijyanont P, Beyene J, Wei K, Khan F, Dror Y. Leukaemia-related gene expression in bone marrow cells from patients with the preleukaemic disorder Shwachman-Diamond syndrome. Br J Haematol. 2007;137:537-44 pubmed..Additional molecular and cytogenetic events are probably necessary for the malignant process to be irreversible and complete...
- Shlien A, Baskin B, Achatz M, Stavropoulos D, Nichols K, Hudgins L, et al. A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Am J Hum Genet. 2010;87:631-42 pubmed publisher..Future studies should consider whether other loci in the genome also give rise to phenotypically distinct disorders by means of a common mechanism, resulting in a similar formation signature. ..
- Maegawa G, Chitayat D, Blaser S, Whyte H, Thomas M, Kim P, et al. Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?. Clin Dysmorphol. 2006;15:191-6 pubmed..To the best of our knowledge, this is a hitherto new syndrome with an unknown inheritance...
- Raybaud C, Di Rocco C. Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review. Childs Nerv Syst. 2007;23:1379-88 pubmed..However, whether these abnormalities are secondary to the bone disease or primary (e.g. callosal agenesis) is still controversial. Recent evidence suggests that the white matter defect might be a primary disorder...
- Rujkijyanont P, Watanabe K, Ambekar C, Wang H, Schimmer A, Beyene J, et al. SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway. Haematologica. 2008;93:363-71 pubmed publisher..Our work provides new data about the pro-survival properties of SBDS, whose inhibition results in accelerated apoptosis through the Fas pathway. ..
- Finkelstein Y, Schechter T, Garcia Bournissen F, Kirby M, Nurmohamed L, Juurlink D, et al. Is morphine exposure associated with acute chest syndrome in children with vaso-occlusive crisis of sickle cell disease? A 6-year case-crossover study. Clin Ther. 2007;29:2738-43 pubmed publisher..44 [0.84] mg/kg). Among these children with SCD who presented with VOC, the administration of morphine was not found to be associated with a dose-response effect on the risk for ACS. ..
- Sandor G, Carmichael R, Coraza L, Clokie C, Jordan R. Genetic mutations in certain head and neck conditions of interest to the dentist. J Can Dent Assoc. 2001;67:594 pubmed..Knowing the site of the genetic lesion is important in helping clinicians understand the genetic basis for these conditions, and may help in our future understanding of remedies and treatments. ..
- Riazi M, Brinkman Mills P, Nguyen T, Pan H, Phan S, Ying F, et al. The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome. Genomics. 2000;64:277-85 pubmed..The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects. ..
- Hinek A, Smith A, Cutiongco E, Callahan J, Gripp K, Weksberg R. Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein. Am J Hum Genet. 2000;66:859-72 pubmed..We also present evidence that loss of EBP from fibroblasts of Costello syndrome patients is associated with an unusually high rate of cellular proliferation. ..
- Ray A, Marazita M, Pathak R, Beever C, Cooper M, Goldstein T, et al. TP63 mutation and clefting modifier genes in an EEC syndrome family. Clin Genet. 2004;66:217-22 pubmed
- Vajsar J, Baskin B, Swoboda K, Biggar D, Schachter H, Ray P. Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. Neuromuscul Disord. 2008;18:675-7 pubmed publisher..We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first. ..
- Cano Gauci D, Song H, Yang H, McKerlie C, Choo B, Shi W, et al. Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome. J Cell Biol. 1999;146:255-64 pubmed..Unlike the IGF2R-deficient mice, however, the levels of IGF-II in GPC3 knockouts are similar to those of the normal littermates. ..
- Ofek E, Sato M, Saito T, Wagnetz U, Roberts H, Chaparro C, et al. Restrictive allograft syndrome post lung transplantation is characterized by pleuroparenchymal fibroelastosis. Mod Pathol. 2013;26:350-6 pubmed publisher..Our findings support a temporal sequence of diffuse alveolar damage followed by the development of pleuroparenchymal fibroelastosis in the histopathologic evolution of restrictive allograft syndrome. ..
- Nakabayashi K, Amann D, Ren Y, Saarialho Kere U, Avidan N, Gentles S, et al. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005;76:510-6 pubmed publisher..Given the absence of cutaneous photosensitivity in the patients with C7orf11 mutations, together with the protein's nuclear localization, C7orf11 may be involved in transcription but not DNA repair...
- Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, et al. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. Am J Med Genet A. 2016;170A:77-86 pubmed publisher..In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy. ..
- Vajsar J, Schachter H. Walker-Warburg syndrome. Orphanet J Rare Dis. 2006;1:29 pubmed..Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive. ..
- Kim P, Mo R, Hui Cc C. Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway. J Pediatr Surg. 2001;36:381-4 pubmed..To the authors' knowledge, these mutant mice represent the first animal model that mimics the human VACTERL syndrome, and suggests that aberrations in Shh signaling might be involved in the VACTERL syndrome. ..
- Choi M, Borenstein S, Hornberger L, Langer J. Heterotaxia syndrome: the role of screening for intestinal rotation abnormalities. Arch Dis Child. 2005;90:813-5 pubmed..Most authors recommend routine radiological evaluation, with laparotomy and Ladd procedure if a rotation abnormality is found...
- Parker Katiraee L, Carson A, Yamada T, Arnaud P, Feil R, Abu Amero S, et al. Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. PLoS Genet. 2007;3:e65 pubmed..Thus, KLF14 may be the first example of an imprinted transcript undergoing accelerated evolution in the human lineage. ..
- Albilia J, Humber C, Clokie C, Sandor G. Lemierre syndrome from an odontogenic source: a review for dentists. J Can Dent Assoc. 2010;76:a47 pubmed..This condition was so rare that, historically, it became known as the "forgotten disease," but an increasing frequency of reports indicates that Lemierre syndrome may not be so uncommon...
- Lo B, Li L, Gissen P, Christensen H, McKiernan P, Ye C, et al. Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Blood. 2005;106:4159-66 pubmed..We conclude that like other Sec1/Munc18 proteins, VPS33B is involved in intracellular vesicle trafficking, being essential for the development of platelet alpha-granules but not for granule secretion. ..
- McCarthy D, Chiu S, Gao Y, Summers DeLuca L, Gommerman J. BAFF induces a hyper-IgA syndrome in the intestinal lamina propria concomitant with IgA deposition in the kidney independent of LIGHT. Cell Immunol. 2006;241:85-94 pubmed..Therefore, in the context of BAFF over-expression, LIGHT is dispensable for the generation of a hyper-IgA syndrome accompanied by nephritis. ..
- Fitchett D. The impact of bleeding in patients with acute coronary syndromes: how to optimize the benefits of treatment and minimize the risk. Can J Cardiol. 2007;23:663-71 pubmed
- Weksberg R, Stachon A, Squire J, Moldovan L, Bayani J, Meyn S, et al. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet. 2007;120:837-45 pubmed..Further studies are needed to elucidate the molecular basis of schizophrenia and clinical heterogeneity in 22q11DS...
- Miller G, Somani S, Nowaczyk M, Feigenbaum A, Davidson R, Costa T, et al. The ocular manifestations of Jacobsen syndrome: a report of four cases and a review of the literature. Ophthalmic Genet. 2006;27:1-7 pubmed..We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations...
- Tsangaris E, Adams S, Yoon G, Chitayat D, Lansdorp P, Dokal I, et al. Ataxia and pancytopenia caused by a mutation in TINF2. Hum Genet. 2008;124:507-13 pubmed publisher..845G>A (Arg282His) in TINF2, a gene recently reported to be mutated in a subset of patients with autosomal dominant dyskeratosis congenita. We propose that some cases of ataxia-pancytopenia may be affected by DC. ..
- Caluseriu O, Mirza G, Ragoussis J, Chow E, MacCrimmon D, Bassett A. Schizophrenia in an adult with 6p25 deletion syndrome. Am J Med Genet A. 2006;140:1208-13 pubmed..Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation...
- Bohgaki T, Bohgaki M, Cardoso R, Panier S, Zeegers D, Li L, et al. Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome. PLoS Genet. 2011;7:e1001381 pubmed publisher..These results highlight a central role for RNF168 in the hierarchical network of DNA break signaling that maintains genomic integrity and suppresses cancer development in mammals. ..
- Quercia N, Teebi A. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance. Am J Med Genet. 2002;107:38-42 pubmed..These findings will have important implications for genetic counseling...
- Duffy S, Shing J, Saraon P, Berger L, Eiden M, Wilde A, et al. The Fowler syndrome-associated protein FLVCR2 is an importer of heme. Mol Cell Biol. 2010;30:5318-24 pubmed publisher..The identification of a cellular function for FLVCR2 will have important implications in elucidating the pathogenic mechanisms of Fowler syndrome and of phenotypically associated disorders. ..
- Heathcote J. Variant syndromes of autoimmune hepatitis. Clin Liver Dis. 2002;6:669-84 pubmed..It is only after boundaries have been decided by consensus that the true variants of autoimmune liver disease can be appreciated. Until then, both the diagnosis and treatment of these syndromes will be arbitrary and unclear. ..
- Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer. 2005;45:892-901 pubmed..We also review the diagnostic and therapeutic approaches to the hematological complications in the syndrome...
- Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin A, et al. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum Mol Genet. 2001;10:1631-8 pubmed..We conclude that increased activity of one PITX2 allele may be as physiologically disruptive as a mutation that nullifies a PITX2 allele, with either condition resulting in ARS. ..
- Mori A, Bruneau B. TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr Opin Cardiol. 2004;19:211-5 pubmed..This review summarizes recent developments in the study of TBX5 as it relates to congenital heart disease and the pathology of HOS...
- Kamel K, Oh M, Halperin M. Bartter's, Gitelman's, and Gordon's syndromes. From physiology to molecular biology and back, yet still some unanswered questions. Nephron. 2002;92 Suppl 1:18-27 pubmed..Our objective is to integrate these new insights into an understanding of the pathophysiology of renal potassium handling. We also propose different ways to think about some of the unresolved issues in this area...
- Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock G, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet. 2001;68:1048-54 pubmed..However, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region. ..
- Schuurs Hoeijmakers J, Landsverk M, Foulds N, Kukolich M, Gavrilova R, Greville Heygate S, et al. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016;170:670-5 pubmed publisher..There is persistence of oral motor dysfunction. We provide suggestions for clinical work-up and management and hope that the present study will facilitate clinical recognition of further cases. ..
- Drucker A, Pope E, Mahant S, Weinstein M. Vincristine and corticosteroids as first-line treatment of Kasabach-Merritt syndrome in kaposiform hemangioendothelioma. J Cutan Med Surg. 2009;13:155-9 pubmed..Recently, there have been increasing reports of the use of the chemotherapeutic drug vincristine in these patients...
- Nakabayashi K, Fernandez B, Teshima I, Shuman C, Proud V, Curry C, et al. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 2002;79:186-96 pubmed..We also identified other transcription units from this immediate region, but all seem to be biallelically expressed when using a somatic cell hybrid assay. ..
- Braga J, Tu J, Austin P, Chong A, You J, Farkouh M, et al. Outcomes and care of patients with acute heart failure syndromes and cardiac troponin elevation. Circ Heart Fail. 2013;6:193-202 pubmed publisher..Highly selected cTn+ patients who underwent early coronary revascularization for obstructive coronary artery disease experienced improved survival. ..
- Mandell M, Pavlin C, Weisbrod D, Simpson E. Anterior chamber depth in plateau iris syndrome and pupillary block as measured by ultrasound biomicroscopy. Am J Ophthalmol. 2003;136:900-3 pubmed..This study found that the ACD associated with plateau iris syndrome is shallower than normal and also shallower than in pupillary block. ..
- Hirschfield G, Heathcote E. Cholestasis and cholestatic syndromes. Curr Opin Gastroenterol. 2009;25:175-9 pubmed
- Tao M, Roche Nagle G. First bite syndrome: a complication of carotid endarterectomy. BMJ Case Rep. 2016;2016: pubmed publisher..We present a case and management of a 77-year-old man who developed FBS after an ipsilateral carotid endarterectomy, to raise awareness of this complication among surgeons who operate in the neck region. ..
- Popovic M, Goobie S, Morrison J, Ellis L, Ehtesham N, Richards N, et al. Fine mapping of the locus for Shwachman-Diamond syndrome at 7q11, identification of shared disease haplotypes, and exclusion of TPST1 as a candidate gene. Eur J Hum Genet. 2002;10:250-8 pubmed..These results exclude TPST1 as the causative gene for SDS. The established map of the refined SDS locus will assist in the identification and characterisation of other candidate genes for SDS...
- Zaidi S, Meyer S, Peltekova V, Lindinger A, Teebi A, Faiyaz Ul Haque M. A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin. Eur J Pediatr. 2009;168:867-70 pubmed publisher..We conclude that patients of Kurdish origin who display arterial tortuosity associated with skin hyperextensibility, joint hypermobility, and characteristic facial features may carry mutations in the SLC2A10 gene. ..
- Katz L, Tripp D, Carr L, Mayer R, Moldwin R, Nickel J. Understanding pain and coping in women with interstitial cystitis/bladder pain syndrome. BJU Int. 2017;120:286-292 pubmed publisher..This knowledge should help clinicians understand and manage these patients' distress and disability. ..
- Lu C, Pribanic S, Debonneville A, Jiang C, Rotin D. The PY motif of ENaC, mutated in Liddle syndrome, regulates channel internalization, sorting and mobilization from subapical pool. Traffic. 2007;8:1246-64 pubmed..These results suggest that the ENaC PY motifs (and Nedd4-2) primarily regulate channel internalization but also affect cAMP-dependent replenishment, providing important insight into the Liddle syndrome defects. ..
- Thompson M, Roscioli T, Marcelis C, Nezarati M, Stolte Dijkstra I, Sharom F, et al. Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome). Am J Med Genet A. 2012;158A:553-8 pubmed publisher..2010] have PIGV mutations, we suggest that other genes critical to GPI anchor biosynthesis are likely to be disrupted in some patients...
- Goh E, Li C, Horsburgh S, Kasai Y, Kolomietz E, Morel C. The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature. Am J Med Genet A. 2010;152A:472-8 pubmed publisher..Molecular studies of ESCO2 have confirmed the diagnosis. A literature review, focussing on adult manifestations of this condition and a discussion of follow-up guidelines are presented...
- Andrade D, Hamani C, Minassian B. Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus. Expert Opin Pharmacother. 2009;10:1549-60 pubmed publisher..Myoclonus is a brief shock-like movement that has many different etiologies. The degree to which it disturbs quality of life is extremely variable, as is its response to treatment...
- Boocock G, Marit M, Rommens J. Phylogeny, sequence conservation, and functional complementation of the SBDS protein family. Genomics. 2006;87:758-71 pubmed..These findings link Shwachman-Diamond syndrome to other bone marrow failure syndromes with defects in nucleolus-associated processes, including Diamond-Blackfan anemia, cartilage-hair hypoplasia, and dyskeratosis congenita. ..
- Rotin D, Kanelis V, Schild L. Trafficking and cell surface stability of ENaC. Am J Physiol Renal Physiol. 2001;281:F391-9 pubmed..It also describes the regulation of ENaC stability at the cell surface and the roles of the ubiquitin ligase Nedd4 (and ubiquitination) and clathrin-mediated endocytosis in that regulation...
- Hui C, Joyner A. A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. Nat Genet. 1993;3:241-6 pubmed..Furthermore, structures affected in the mouse mutant and human syndrome were found to correlate with expression domains of Gli3 in mouse. These results strongly suggest that the deficiency of GLI3 function leads to GCPS. ..
- Christodoulou J, McInnes R, Jay V, Wilson G, Becker L, Lehotay D, et al. Barth syndrome: clinical observations and genetic linkage studies. Am J Med Genet. 1994;50:255-64 pubmed..We propose that they may be epiphenomena rather than indicators of the primary metabolic defect, and that the primary defect or defects in this disorder may lie in the mitochondrial electron transport chain. ..