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1,996 results

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Quoted phrase not found in phrase index: "Chromosome 8Q12.1-q21.2 deletion syndrome"
Page 1
Consequences of chromsome18q deletions.
Cody JD, Sebold C, Heard P, Carter E, Soileau B, Hasi-Zogaj M, Hill A, Rupert D, Perry B, O'Donnell L, Gelfond J, Lancaster J, Fox PT, Hale DE. Cody JD, et al. Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):265-80. doi: 10.1002/ajmg.c.31446. Epub 2015 Aug 3. Am J Med Genet C Semin Med Genet. 2015. PMID: 26235940 Review.
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. ...Because of this heterogeneity, we take a gene by ge …
Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly chal …
Deletion 22q13.3 syndrome.
Phelan MC. Phelan MC. Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. Orphanet J Rare Dis. 2008. PMID: 18505557 Free PMC article.
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to sev …
The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome …
Microdeletion 3q syndrome.
Ramieri V, Tarani L, Costantino F, Basile E, Liberati N, Rinna C, Cascone P, Colloridi F. Ramieri V, et al. J Craniofac Surg. 2011 Nov;22(6):2124-8. doi: 10.1097/SCS.0b013e3182323cdf. J Craniofac Surg. 2011. PMID: 22067867
The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). ...He was affected by Dandy-walker malformation, chara …
The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary appro …
Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P. Verrotti A, et al. Seizure. 2015 Nov;32:78-83. doi: 10.1016/j.seizure.2015.09.013. Epub 2015 Sep 28. Seizure. 2015. PMID: 26552569 Free article. Review.
PURPOSE: To analyze the various types of epilepsy in subjects with chromosome 18 aberrations in order to define epilepsy and its main clinical, electroclinical and prognostic aspects in chromosome 18 anomalies. METHODS: A careful overview of recent works conc …
PURPOSE: To analyze the various types of epilepsy in subjects with chromosome 18 aberrations in order to define epilepsy and its main …
Wolf-Hirschhorn (4p-) syndrome.
Battaglia A, Carey JC, Wright TJ. Battaglia A, et al. Adv Pediatr. 2001;48:75-113. Adv Pediatr. 2001. PMID: 11480768 Review.
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of chromosome 4 (4p-). ...Although thought to affect 1 per 50,000 births, we believe that the syndrome is more common because of …
Wolf-Hirschhorn syndrome (WHS) is a well-known congenital malformation syndrome caused by deletion of the short arm of …
Biology and treatment of the 5q- syndrome.
Padron E, Komrokji R, List AF. Padron E, et al. Expert Rev Hematol. 2011 Feb;4(1):61-9. doi: 10.1586/ehm.11.2. Expert Rev Hematol. 2011. PMID: 21322779 Review.
The 5q- syndrome is a unique subtype of myelodysplastic syndromes typified by a relatively indolent course and responsiveness to lenalidomide. Here, we review the salient biologic features of this disease. Hemizygous deletion of a segment of chromos …
The 5q- syndrome is a unique subtype of myelodysplastic syndromes typified by a relatively indolent course and responsi …
Dystrophinopathies: clarification and complication.
Samaha FJ, Quinlan JG. Samaha FJ, et al. J Child Neurol. 1996 Jan;11(1):13-20. doi: 10.1177/088307389601100103. J Child Neurol. 1996. PMID: 8745379 Review.
The purpose of this review is to analyze the clinical applications of a remarkable series of advances made in molecular genetics, primarily with regard to Becker muscular dystrophy. A new classification is required to clarify such syndromes as Duchenne and Becker muscular …
The purpose of this review is to analyze the clinical applications of a remarkable series of advances made in molecular genetics, primarily …
The 5q- syndrome.
Giagounidis AA, Germing U, Wainscoat JS, Boultwood J, Aul C. Giagounidis AA, et al. Hematology. 2004 Aug;9(4):271-7. doi: 10.1080/10245330410001723824. Hematology. 2004. PMID: 15621734
The 5q- syndrome is a distinct hematological disorder with typical laboratory, morphological, cytogenetic, molecular, and prognostic features. It is defined as a myelodysplastic syndrome with a medullary blast count <5% and an isolated interstitial dele …
The 5q- syndrome is a distinct hematological disorder with typical laboratory, morphological, cytogenetic, molecular, and prognost …
Angelman syndrome: clinical profile.
Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. Zori RT, et al. J Child Neurol. 1992 Jul;7(3):270-80. doi: 10.1177/088307389200700307. J Child Neurol. 1992. PMID: 1634750 Review.
Except for seizures, no medical or surgical complication was common, although a variety of visual complaints or findings were common. Sixty percent of Angelman syndrome children had a cytogenetically demonstrated deletion of chromosome 15q11-q13. The individu …
Except for seizures, no medical or surgical complication was common, although a variety of visual complaints or findings were common. Sixty …
Prenatal diagnosis of the 22q11.2 deletion syndrome.
Driscoll DA. Driscoll DA. Genet Med. 2001 Jan-Feb;3(1):14-8. doi: 10.1097/00125817-200101000-00004. Genet Med. 2001. PMID: 11339370 Free article. Review.
Current indications for testing include a previous child with a 22q11.2 deletion or DiGeorge/velocardiofacial syndrome, an affected parent with a 22q11.2 deletion, and in utero detection of a conotruncal cardiac defect. Antenatal knowledge of the deletion …
Current indications for testing include a previous child with a 22q11.2 deletion or DiGeorge/velocardiofacial syndrome, an aff …
1,996 results