Publications by authors named "Aleksander Jamsheer"

47Publications

Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion.

Birth Defects Res 2020 Jun 11;112(10):740-748. Epub 2020 Jun 11.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/bdr2.1744DOI Listing
June 2020

A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2.

Birth Defects Res 2020 May 14;112(9):652-659. Epub 2020 Apr 14.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1002/bdr2.1676DOI Listing
May 2020

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Jpn J Ophthalmol 2020 Mar 3;64(2):134-139. Epub 2020 Feb 3.

Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806, Poznan, Poland.

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http://dx.doi.org/10.1007/s10384-020-00715-6DOI Listing
March 2020

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Am J Med Genet A 2019 12 11;179(12):2447-2453. Epub 2019 Sep 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61354DOI Listing
December 2019

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

Clin Genet 2019 11 31;96(5):429-438. Epub 2019 Jul 31.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.

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http://dx.doi.org/10.1111/cge.13610DOI Listing
November 2019

Phenotypic description of two adult brothers presenting with mild form of Smith-Lemli-Opitz syndrome.

Clin Dysmorphol 2019 Jul;28(3):154-156

Department of Medical Genetics, University of Medical Sciences in Poznan.

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http://dx.doi.org/10.1097/MCD.0000000000000276DOI Listing
July 2019

Rapidly Progressing Brain Atrophy in a Child With Developmental Regression.

Pediatr Neurol 2019 05 24;94:80-81. Epub 2018 Nov 24.

Department of Child Neurology, Medical University of Warsaw, Warsaw, Poland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.009DOI Listing
May 2019

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation.

J Appl Genet 2018 Aug 29;59(3):281-289. Epub 2018 May 29.

Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland.

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http://dx.doi.org/10.1007/s13353-018-0447-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060980PMC
August 2018

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.

Birth Defects Res 2018 03 14;110(4):376-381. Epub 2017 Nov 14.

Department of Pediatric Nephrology and Hypertension, Faculty of Medicine, Jagiellonian University Medical College, Cracow, Poland.

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http://dx.doi.org/10.1002/bdr2.1151DOI Listing
March 2018

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the and the genes.

Springerplus 2016 21;5(1):1638. Epub 2016 Sep 21.

Department of Medical Genetics, Poznan University of Medical Sciences, Fredry 10, 61-701 Poznan, Poland ; NZOZ Center for Medical Genetics, GENESIS ul. Grudzieniec 4, 60-601 Poznan, Poland.

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http://dx.doi.org/10.1186/s40064-016-3275-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031565PMC
September 2016

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

Int J Endocrinol 2016 30;2016:5178953. Epub 2016 Aug 30.

Poznan University of Medical Sciences, 2nd Chair of Pediatrics, Department of Pediatric Endocrinology and Rheumatology, 27/33 Szpitalna Street, 60-572 Poznan, Poland; Karol Jonscher's Clinical Hospital, 27/33 Szpitalna Street, 60-572 Poznan, Poland.

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http://dx.doi.org/10.1155/2016/5178953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021503PMC
September 2016

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.

Congenit Anom (Kyoto) 2017 Jan;57(1):37-38

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1111/cga.12177DOI Listing
January 2017

Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.

Birth Defects Res A Clin Mol Teratol 2014 Oct 5;100(10):764-71. Epub 2014 Sep 5.

Department of Medical Genetics, Poznan University of Medical Sciences, Poland.

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http://dx.doi.org/10.1002/bdra.23298DOI Listing
October 2014

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.

Birth Defects Res A Clin Mol Teratol 2014 Apr 7;100(4):314-8. Epub 2014 Apr 7.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.

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http://dx.doi.org/10.1002/bdra.23239DOI Listing
April 2014

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.

J Appl Genet 2014 May 15;55(2):183-8. Epub 2014 Feb 15.

Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland,

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http://dx.doi.org/10.1007/s13353-014-0195-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990859PMC
May 2014

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Gene 2014 Apr 6;539(1):157-61. Epub 2014 Feb 6.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.

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http://dx.doi.org/10.1016/j.gene.2014.01.066DOI Listing
April 2014

Split-hand/foot malformation - molecular cause and implications in genetic counseling.

J Appl Genet 2014 Feb 27;55(1):105-15. Epub 2013 Oct 27.

Department of Medical Genetics, Poznan University of Medical Sciences, 55 Grunwaldzka Street, Pav. 15, 60-352, Poznan, Poland,

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http://dx.doi.org/10.1007/s13353-013-0178-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909621PMC
February 2014

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

J Med Genet 2013 Sep 24;50(9):579-84. Epub 2013 May 24.

Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.1136/jmedgenet-2013-101659DOI Listing
September 2013

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report.

Gynecol Endocrinol 2013 May 1;29(5):511-4. Epub 2013 Feb 1.

Department of Gynecological Endocrinology, Poznan University of Medical Sciences, Poznan, Poland.

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http://dx.doi.org/10.3109/09513590.2012.760196DOI Listing
May 2013

Three new patients with FATCO: fibular agenesis with ectrodactyly.

Am J Med Genet A 2012 Jul 24;158A(7):1542-50. Epub 2012 May 24.

Department of Diagnostic Imaging, Polish Mother's Memorial Hospital, Lodz, Poland.

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http://doi.wiley.com/10.1002/ajmg.a.35369
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http://dx.doi.org/10.1002/ajmg.a.35369DOI Listing
July 2012

Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report.

BMC Med Genet 2012 Jan 10;13. Epub 2012 Jan 10.

Department of Medical Genetics, University of Medical Sciences in Poznan, Poland, ul. Grunwaldzka 55 paw. 15, 60-352 Poznan, Poland.

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http://dx.doi.org/10.1186/1471-2350-13-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278352PMC
January 2012

PAX6 3' deletion in a family with aniridia.

Ophthalmic Genet 2012 Mar 10;33(1):44-8. Epub 2011 Oct 10.

Department of Medical Genetics, Poznan University of Medical Science, Poznan, Poland.

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http://dx.doi.org/10.3109/13816810.2011.615076DOI Listing
March 2012

[Genetic background of isolated forms of congenital malformations of the hand].

Med Wieku Rozwoj 2008 Jul-Sep;12(3):729-37

Katedra i Zakład Genetyki Medycznej Uniwersytet Medyczny im. K. Marcinkowskiego w Poznaniu, 60-352 Poznań, ul. Grunwaldzka 55 paw. 15, Poland.

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April 2009

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].

Med Wieku Rozwoj 2007 Jan-Mar;11(1):57-64

Zakład Genetyki Medycznej, Instytut Matki i Dziecka, ul. Kasprzaka 11a, 01-211 Warszawa, Poland.

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December 2007