Literature DB >> 11565548

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes.

H Tönnies, I Schulze, H Hennies, L M Neumann, R Keitzer, H Neitzel.   

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Year:  2001        PMID: 11565548      PMCID: PMC1734945          DOI: 10.1136/jmg.38.9.617

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


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  10 in total

1.  Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

Authors:  L Castiglia; M Fichera; C Romano; O Galesi; L Grillo; M Sturnio; P Failla
Journal:  Am J Hum Genet       Date:  2005-11       Impact factor: 11.025

2.  Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.

Authors:  Molka Kammoun; Wafa Slimani; Hanene Hannachi; Mohamed Bibi; Ali Saad; Soumaya Mougou-Zerelli
Journal:  J Pediatr Genet       Date:  2017-04-26

3.  Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.

Authors:  Aisling M O'Riordan; Niamh McGrath; Farhana Sharif; Nuala P Murphy; Orla Franklin; Sally Ann Lynch; Michael J O'Grady
Journal:  Eur J Pediatr       Date:  2016-11-08       Impact factor: 3.183

4.  Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Authors:  C Le Caignec; M Boceno; P Saugier-Veber; S Jacquemont; M Joubert; A David; T Frebourg; J M Rival
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

5.  Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays.

Authors:  Marilyn M Li; Manjunath A Nimmakayalu; Danielle Mercer; Hans C Andersson; Beverly S Emanuel
Journal:  Am J Med Genet A       Date:  2008-02-01       Impact factor: 2.802

Review 6.  A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

Authors:  Jörg Seidel; Anita Heller; Gabriele Senger; Heike Starke; Ilse Chudoba; Christina Kelbova; Holger Tönnies; Heidemarie Neitzel; Claudia Haase; Volkmar Beensen; Felix Zintl; Uwe Claussen; Thomas Liehr
Journal:  Eur J Pediatr       Date:  2003-06-19       Impact factor: 3.183

7.  Bone Status in a Patient with Insulin-Like Growth Factor-1 Receptor Deletion Syndrome: Bone Quality and Structure Evaluation Using Dual-Energy X-Ray Absorptiometry, Peripheral Quantitative Computed Tomography, and Quantitative Ultrasonography.

Authors:  Paola Pelosi; Elisabetta Lapi; Loredana Cavalli; Alberto Verrotti; Marilena Pantaleo; Maurizio de Martino; Stefano Stagi
Journal:  Front Endocrinol (Lausanne)       Date:  2017-09-05       Impact factor: 5.555

8.  15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review.

Authors:  Yahya Benbouchta; Nicole De Leeuw; Saadia Amasdl; Aziza Sbiti; Dominique Smeets; Khalid Sadki; Abdelaziz Sefiani
Journal:  Ital J Pediatr       Date:  2021-09-16       Impact factor: 2.638

9.  Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report.

Authors:  Roberta S Guilherme; Vera de Fa Meloni; Sylvia S Takeno; Renata Pellegrino; Decio Brunoni; Leslie D Kulikowski; Maria I Melaragno
Journal:  J Med Case Rep       Date:  2012-09-07

10.  Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.

Authors:  Josef Davidsson; Anna Collin; Gudrun Björkhem; Maria Soller
Journal:  BMC Med Genet       Date:  2008-01-14       Impact factor: 2.103

  10 in total

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