Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

97 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Bukowska-Olech E, Materna-Kiryluk A, Walczak-Sztulpa J, Popiel D, Badura-Stronka M, Koczyk G, Dawidziuk A, Jamsheer A. Bukowska-Olech E, et al. Among authors: jamsheer a. Front Genet. 2020 Nov 11;11:580477. doi: 10.3389/fgene.2020.580477. eCollection 2020. Front Genet. 2020. PMID: 33262786 Free PMC article.
Comparative study of clinical characteristics of amniotic rupture sequence with and without body wall defect: further evidence for separation.
Jamsheer A, Materna-Kiryluk A, Badura-Stronka M, Wiśniewska K, Wieckowska B, Mejnartowicz J, Balcar-Boroń A, Borszewska-Kornacka M, Czerwionka-Szaflarska M, Gajewska E, Godula-Stuglik U, Krawczynski M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwałkiewicz-Warowicka E, Swietliński J, Walczak M, Latos-Bieleńska A. Jamsheer A, et al. Birth Defects Res A Clin Mol Teratol. 2009 Mar;85(3):211-5. doi: 10.1002/bdra.20555. Birth Defects Res A Clin Mol Teratol. 2009. PMID: 19180633
Maternal reproductive history and the risk of isolated congenital malformations.
Materna-Kiryluk A, Więckowska B, Wiśniewska K, Borszewska-Kornacka MK, Godula-Stuglik U, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwałkiewicz-Warowicka E, Walczak M; Members of PRCM Working Group. Materna-Kiryluk A, et al. Paediatr Perinat Epidemiol. 2011 Mar;25(2):135-43. doi: 10.1111/j.1365-3016.2010.01186.x. Epub 2011 Jan 12. Paediatr Perinat Epidemiol. 2011. PMID: 21281326
Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
Sowińska-Seidler A, Badura-Stronka M, Latos-Bieleńska A, Stronka M, Jamsheer A. Sowińska-Seidler A, et al. Among authors: jamsheer a. Birth Defects Res A Clin Mol Teratol. 2014 Oct;100(10):764-71. doi: 10.1002/bdra.23298. Epub 2014 Sep 5. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25196357
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: jamsheer a. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A. Jamsheer A, et al. J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763883
97 results