Publications by authors named "Salim Aftimos"

64Publications

Implications of a Chr7q21.11 Microdeletion and the Role of the PCLO Gene in Developmental Delay.

Sultan Qaboos Univ Med J 2013 May 9;13(2):306-10. Epub 2013 May 9.

Diagnostic Genetics, LabPLUS, Auckland, New Zealand.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706123PMC
http://dx.doi.org/10.12816/0003239DOI Listing
May 2013

Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.

Sultan Qaboos Univ Med J 2013 Feb 27;13(1):80-7. Epub 2013 Feb 27.

Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3616804PMC
http://dx.doi.org/10.12816/0003199DOI Listing
February 2013

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Neurogenetics 2013 May 2;14(2):113-21. Epub 2013 Mar 2.

Department of Women's and Children's Health, Dunedin School of Medicine, Dunedin, New Zealand.

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http://link.springer.com/10.1007/s10048-013-0359-8
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http://dx.doi.org/10.1007/s10048-013-0359-8DOI Listing
May 2013

A novel 2.3 mb microduplication of 9q34.3 inserted into 19q13.4 in a patient with learning disabilities.

Case Rep Pediatr 2012 13;2012:459602. Epub 2012 Nov 13.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2012/459602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502809PMC
December 2012

Focal dermal hypoplasia due to a novel mutation in a boy with Klinefelter syndrome.

Pediatr Dermatol 2013 Jul-Aug;30(4):476-9. Epub 2012 Nov 7.

Newborn Services, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1111/pde.12031DOI Listing
February 2014

Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.

Case Rep Genet 2012 22;2012:172408. Epub 2012 May 22.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2012/172408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447220PMC
October 2012

Pseudotrisomy 13 syndrome: use of homozygosity mapping to target candidate genes.

Gene 2011 Oct 4;486(1-2):37-40. Epub 2011 Jul 4.

Diagnostic Genetics, LabPlus, Auckland City Hospital, New Zealand.

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http://dx.doi.org/10.1016/j.gene.2011.06.028DOI Listing
October 2011

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.

Clin Orthop Relat Res 2011 Jun 26;469(6):1785-90. Epub 2011 Mar 26.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1007/s11999-011-1850-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094608PMC
June 2011

Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium.

Am J Med Genet A 2011 Mar 18;155A(3):589-94. Epub 2011 Feb 18.

Division of Medical Genetics, Queen's University, Kingston, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33499DOI Listing
March 2011

Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly.

Case Rep Genet 2011 13;2011:898706. Epub 2011 Nov 13.

Diagnostic Genetics, LabPlus, Auckland City Hospital, P.O. Box 110031, Auckland 1148, New Zealand.

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http://dx.doi.org/10.1155/2011/898706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3447219PMC
October 2012

Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome.

Clin Dysmorphol 2010 Oct;19(4):225-6

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http://dx.doi.org/10.1097/MCD.0b013e32833b2bd3DOI Listing
October 2010

The Coffin-Lowry syndrome: a case report and review of the literature.

J Obstet Gynaecol Can 2010 Jul;32(7):691-4

Department of Obstetrics and Gynaecology, University of Calgary, Calgary AB.

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http://dx.doi.org/10.1016/s1701-2163(16)34576-5DOI Listing
July 2010

Array comparative genomic hybridisation: a new tool in the diagnostic genetic armoury.

N Z Med J 2010 Jul 16;123(1318):50-61. Epub 2010 Jul 16.

LabPlus, Auckland City Hospital, Auckland, New Zealand.

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July 2010

A newborn with likely Okamoto syndrome.

Clin Dysmorphol 2010 Apr;19(2):103-6

Auckland City Hospital, New Zealand.

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http://dx.doi.org/10.1097/MCD.0b013e328337bb8dDOI Listing
April 2010

Distal 5q deletion with associated parietal foramina.

Clin Dysmorphol 2010 Jan;19(1):43-7

Northern Regional Genetic Service, Auckland City Hospital, Auckland 1142, New Zealand.

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http://dx.doi.org/10.1097/MCD.0b013e3283345596DOI Listing
January 2010

New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome.

Int J Pediatr Otorhinolaryngol 2009 Oct 24;73(10):1464-6. Epub 2009 Jul 24.

Northern Regional Genetic Services, Starship Children's Hospital, Building 30, Private Bag 92024, Grafton, Auckland 1010, New Zealand.

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http://dx.doi.org/10.1016/j.ijporl.2009.06.010DOI Listing
October 2009

Fryns-Aftimos syndrome with milder clinical manifestations.

Clin Dysmorphol 2009 Apr;18(2):95-7

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http://dx.doi.org/10.1097/mcd.0b013e3283218256DOI Listing
April 2009

Fetal methotrexate/aminopterin syndrome in an adult: a likely case with ectodermal abnormalities.

Authors:
Salim Aftimos

Clin Dysmorphol 2009 Jan;18(1):53-5

Northern Regional Genetic Service, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1097/MCD.0b013e32831552c4DOI Listing
January 2009

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Eur J Hum Genet 2008 Oct 14;16(10):1176-86. Epub 2008 May 14.

Department of Paediatrics and Child Health, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1038/ejhg.2008.91DOI Listing
October 2008

Isolated absence of the Moro reflex in a baby with CHARGE syndrome could reflect vestibular abnormalities.

J Child Neurol 2008 May;23(5):561-3

Newborn, Auckland City Hospital, Liggins Institute, University of Auckland, New Zealand.

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http://dx.doi.org/10.1177/0883073807309779DOI Listing
May 2008

Characterizing the oculoauriculofrontonasal syndrome.

Clin Dysmorphol 2008 Apr;17(2):79-85

Genetic Health Queensland, Royal Children's Hospital, University of Queensland, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e3282f449c8DOI Listing
April 2008

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.

Am J Med Genet A 2007 Nov;143A(21):2607-11

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31989DOI Listing
November 2007

Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

Am J Med Genet A 2007 Nov;143A(21):2512-22

Genetic Health Services Victoria, 10th Floor Royal Children's Hospital, Melbourne, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.31941
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http://dx.doi.org/10.1002/ajmg.a.31941DOI Listing
November 2007

FGFR3 mutations and medial temporal lobe dysgenesis.

J Child Neurol 2007 Feb;22(2):211-3

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1177/0883073807300292DOI Listing
February 2007

Congenital aneurysm of the muscular interventricular septum in association with cardiac arrhythmias and a chromosomal abnormality.

Pediatr Cardiol 2007 Jan-Feb;28(1):57-60. Epub 2007 Feb 15.

Green Lane, Paediatric and Congenital Cardiac Service, Starship Children's Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1007/s00246-004-0928-6DOI Listing
May 2007

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

Clin Dysmorphol 2007 Jan;16(1):9-13

Northern Regional Genetic Services, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1097/MCD.0b013e3280110b57DOI Listing
January 2007

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.

Am J Med Genet A 2006 Sep;140(18):1955-9

Genetic Health Services Victoria, 10th Floor Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31411DOI Listing
September 2006

Familial congenital non-immune hydrops.

Am J Med Genet A 2006 Aug;140(15):1709

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http://dx.doi.org/10.1002/ajmg.a.31347DOI Listing
August 2006

Greater trochanteric stippling in trisomy 7p.

Pediatr Radiol 2006 Aug 7;36(8):863-5. Epub 2006 Jun 7.

Department of Paediatrics, Starship Children's Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1007/s00247-006-0179-1DOI Listing
August 2006

Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features.

Clin Dysmorphol 2005 Jul;14(3):151-3

Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1097/00019605-200507000-00010DOI Listing
July 2005

Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region.

Am J Med Genet A 2005 Jul;136(1):12-6

Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.30693DOI Listing
July 2005

Familial lipomyelomeningocele: a further report.

Am J Med Genet A 2005 Jan;132A(1):90-2

Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.30404DOI Listing
January 2005

Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24-q26.

Am J Med Genet A 2004 Oct;130A(2):208-10

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http://dx.doi.org/10.1002/ajmg.a.30238DOI Listing
October 2004

Airway management during an EXIT procedure for a fetus with dysgnathia complex.

Paediatr Anaesth 2004 Sep;14(9):781-6

Department of Anaesthesia, Auckland Children's Hospital, Park Road, Auckland, New Zealand.

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http://dx.doi.org/10.1111/j.1460-9592.2004.01284.xDOI Listing
September 2004

Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p.

Am J Med Genet A 2003 Jun;119A(3):288-92

Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.

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http://doi.wiley.com/10.1002/ajmg.a.20079
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http://dx.doi.org/10.1002/ajmg.a.20079DOI Listing
June 2003

Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death.

Am J Med Genet A 2003 May;119A(1):32-6

Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.20078DOI Listing
May 2003

CHARGE association and secondary hypoadrenalism.

Am J Med Genet A 2003 Mar;117A(2):177-80

Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.10917DOI Listing
March 2003

Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review.

Clin Dysmorphol 2003 Jan;12(1):63-8

Northern Regional Genetic Service, Auckland Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1097/00019605-200301000-00012DOI Listing
January 2003

Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy.

Am J Med Genet 2002 Nov;113(2):167-72

Division of Medical Genetics, University of Leicester, and Department of Molecular Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK.

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http://doi.wiley.com/10.1002/ajmg.10751
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http://dx.doi.org/10.1002/ajmg.10751DOI Listing
November 2002

Setleis syndrome: three new cases and a review of the literature.

Am J Med Genet 2002 Sep;111(4):376-80

Northern Regional Genetic Service, Auckland Hospital, New Zealand.

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http://doi.wiley.com/10.1002/ajmg.10632
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http://dx.doi.org/10.1002/ajmg.10632DOI Listing
September 2002