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Items: 1 to 50 of 186

1.

Identification of Large Isotope Anomalies in Quartz by Infrared Spectroscopy.

Ogliore RC, Dwyer C, Krawczynski MJ, Couvy H, Eisele M, Filiberto J.

Appl Spectrosc. 2019 Jul;73(7):767-773. doi: 10.1177/0003702819842558. Epub 2019 May 20.

PMID:
31107100
2.

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.

Skorczyk-Werner A, Wawrocka A, Kochalska N, Krawczynski MR.

Orphanet J Rare Dis. 2018 Dec 12;13(1):221. doi: 10.1186/s13023-018-0965-5.

3.

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorder of sex development.

Kolesinska Z, Acierno J, Ahmed SF, Xu C, Kapczuk K, Skorczyk-Werner A, Mikos H, Rojek A, Massouras A, Krawczyński M, Pitteloud N, Niedziela M.

Endocr Connect. 2018 Nov 1. pii: EC-18-0472. doi: 10.1530/EC-18-0472. [Epub ahead of print]

4.

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop.

Sanders C, Hall J, Sanders C, Dessens A, Bryce J, Callens N, Cools M, Kourime M, Kyriakou A, Springer A, Audi L, Balsamo A, Iotova V, Mladenov V, Krawczynski M, Nordenskjöld A, Rozas M, Claahsen-van der Grinten H, Hiort O, Riedl S, Ahmed SF.

Sex Dev. 2018 Jun 23. doi: 10.1159/000490081. [Epub ahead of print]

PMID:
29936513
5.

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A, Skorczyk-Werner A, Wicher K, Niedziela Z, Ploski R, Rydzanicz M, Sykulski M, Kociecki J, Weisschuh N, Kohl S, Biskup S, Wissinger B, Krawczynski MR.

Mol Vis. 2018 Apr 26;24:326-339. eCollection 2018.

6.

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development.

Dessens A, Guaragna-Filho G, Kyriakou A, Bryce J, Sanders C, Nordenskjöld A, Rozas M, Iotova V, Ediati A, Juul A, Krawczynski M, Hiort O, Faisal Ahmed S.

BMJ Paediatr Open. 2017 Aug 31;1(1):e000132. doi: 10.1136/bmjpo-2017-000132. eCollection 2017. Erratum in: BMJ Paediatr Open. 2018 Feb 23;2(1):e000132corr1.

7.

The genetics of aniridia - simple things become complicated.

Wawrocka A, Krawczynski MR.

J Appl Genet. 2018 May;59(2):151-159. doi: 10.1007/s13353-017-0426-1. Epub 2018 Feb 19. Review.

8.

Cefepime Intravenous Push Versus Intravenous Piggyback on Time to Administration of First-Dose Vancomycin in the Emergency Department.

Tran A, O'Sullivan D, Krawczynski M.

J Pharm Pract. 2018 Dec;31(6):605-609. doi: 10.1177/0897190017734442. Epub 2017 Oct 18.

PMID:
29046121
9.

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR.

Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16.

10.

Co-occurrence of Jalili syndrome and muscular overgrowth.

Wawrocka A, Walczak-Sztulpa J, Badura-Stronka M, Owecki M, Kopczynski P, Mrukwa-Kominek E, Skorczyk-Werner A, Gasperowicz P, Ploski R, Krawczynski MR.

Am J Med Genet A. 2017 Aug;173(8):2280-2283. doi: 10.1002/ajmg.a.38318. Epub 2017 Jun 6.

PMID:
28586144
11.

A Guideline Update of Out-of-Hospital Cardiac Arrest in Adults.

Morrison M, Krawczynski M.

Conn Med. 2017 Jan;81(1):35-39. No abstract available.

PMID:
29782765
12.

Achromatopsia mutations target sequential steps of ATF6 activation.

Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH.

Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27.

13.

Current models of care for disorders of sex development - results from an International survey of specialist centres.

Kyriakou A, Dessens A, Bryce J, Iotova V, Juul A, Krawczynski M, Nordenskjöld A, Rozas M, Sanders C, Hiort O, Ahmed SF.

Orphanet J Rare Dis. 2016 Nov 21;11(1):155.

14.

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

Rojek A, Krawczynski MR, Jamsheer A, Sowinska-Seidler A, Iwaniszewska B, Malunowicz E, Niedziela M.

Int J Endocrinol. 2016;2016:5178953. doi: 10.1155/2016/5178953. Epub 2016 Aug 30.

15.

Comparison of Weight-Based Dose vs. Standard Dose Diltiazem in Patients with Atrial Fibrillation Presenting to the Emergency Department.

Ross AL, O'Sullivan DM, Drescher MJ, Krawczynski MA.

J Emerg Med. 2016 Oct;51(4):440-446. doi: 10.1016/j.jemermed.2016.05.036. Epub 2016 Jul 21.

PMID:
27452987
16.

Sodium Zirconium Cyclosilicate (ZS-9): A Novel Agent for the Treatment of Hyperkalemia.

Linder KE, Krawczynski MA, Laskey D.

Pharmacotherapy. 2016 Aug;36(8):923-33. doi: 10.1002/phar.1797. Epub 2016 Aug 2. Review.

PMID:
27393581
17.
18.

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Ścieżyńska A, Oziębło D, Ambroziak AM, Korwin M, Szulborski K, Krawczyński M, Stawiński P, Szaflik J, Szaflik JP, Płoski R, Ołdak M.

Exp Eye Res. 2016 Apr;145:93-99. doi: 10.1016/j.exer.2015.11.011. Epub 2015 Nov 22.

PMID:
26593885
19.

Genetic evaluation of patients with Alström syndrome in the Polish population.

Zmyslowska A, Borowiec M, Antosik K, Ploski R, Ciechanowska M, Iwaniszewska B, Jakubiuk-Tomaszuk A, Janczyk W, Krawczynski M, Salmonowicz B, Stelmach M, Mlynarski W.

Clin Genet. 2016 Apr;89(4):448-453. doi: 10.1111/cge.12656. Epub 2015 Sep 24.

PMID:
26283575
20.

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).

Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, Bakunowicz-Łazarczyk A, Krawczyński MR.

J Appl Genet. 2015 Aug;56(3):317-27. doi: 10.1007/s13353-015-0281-x. Epub 2015 Mar 28. Review.

21.

Getting to the heart of the matter: cardiovascular disease in patients with HIV.

Simonds LM, Krawczynski M.

Conn Med. 2014 Oct;78(9):553-7. No abstract available.

PMID:
25675599
22.

Five novel CNGB3 gene mutations in Polish patients with achromatopsia.

Wawrocka A, Kohl S, Baumann B, Walczak-Sztulpa J, Wicher K, Skorczyk-Werner A, Krawczynski MR.

Mol Vis. 2014 Dec 23;20:1732-9. eCollection 2014.

23.

[In memory of Prof Lech Działoszyński (1912-2014) ].

Krawczyński M.

Postepy Biochem. 2014;60(2):117-8. Polish. No abstract available.

PMID:
25134347
24.

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome.

Krzystolik K, Jakubowska A, Gronwald J, Krawczyński MR, Drobek-Słowik M, Sagan L, Cyryłowski L, Lubiński W, Lubiński J, Cybulski C.

Hered Cancer Clin Pract. 2014 Jun 18;12(1):16. doi: 10.1186/1897-4287-12-16. eCollection 2014.

25.

m.3635G>A mutation as a cause of Leber hereditary optic neuropathy.

Kodroń A, Krawczyński MR, Tońska K, Bartnik E.

J Clin Pathol. 2014 Jul;67(7):639-41. doi: 10.1136/jclinpath-2014-202192. Epub 2014 Apr 19.

PMID:
24747208
26.

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

Wawrocka A, Sikora A, Kuszel L, Krawczynski MR.

J Appl Genet. 2013 Aug;54(3):345-51. doi: 10.1007/s13353-013-0154-0. Epub 2013 Jun 13.

27.

Severe manifestation of Leber's hereditary optic neuropathy due to 11778G>A mtDNA mutation in a female with hypoestrogenism due to Perrault syndrome.

Badura-Stronka M, Wawrocka A, Zawieja K, Silska S, Krawczyński MR.

Mitochondrion. 2013 Nov;13(6):831-4. doi: 10.1016/j.mito.2013.05.011. Epub 2013 Jun 6.

PMID:
23748049
28.

A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment.

Obara-Moszynska M, Maceluch J, Bobkowski W, Baszko A, Jaremba O, Krawczynski MR, Niedziela M.

BMC Pediatr. 2013 Feb 20;13:27. doi: 10.1186/1471-2431-13-27.

29.

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

Meczekalski B, Czyzyk A, Podfigurna-Stopa A, Rydzewski B, Sroczynski J, Lipinska M, Sokalski J, Krawczynski M, Jamsheer A, Katulski K, Genazzani A.

Gynecol Endocrinol. 2013 May;29(5):511-4. doi: 10.3109/09513590.2012.760196. Epub 2013 Feb 1. Review.

PMID:
23368730
30.

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Skorczyk A, Krawczyński MR.

Mol Vis. 2012;18:3004-12. Epub 2012 Dec 13.

31.

Defining the role of medication reconciliation.

Krawczynski M, Hobbs L.

Conn Med. 2012 Nov-Dec;76(10):609-12. No abstract available.

PMID:
23243764
32.

PAX6 3' deletion in a family with aniridia.

Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR.

Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10.

PMID:
21985185
33.

Transverse testicular ectopia with abnormal karyotype - a case report.

Harasymczuk J, Kaminiarczyk-Pyzalka D, Krawczynski M, Niedziela M, Wasko R, Czarnywojtek A, Jankowski A.

Neuro Endocrinol Lett. 2011;32(4):408-10.

PMID:
21876487
34.

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland.

Wozniak A, Wolnik-Brzozowska D, Wisniewska M, Glazar R, Materna-Kiryluk A, Moszura T, Badura-Stronka M, Skolozdrzy J, Krawczynski MR, Zeyland J, Bobkowski W, Slomski R, Latos-Bielenska A, Siwinska A.

BMC Pediatr. 2010 Dec 6;10:88. doi: 10.1186/1471-2431-10-88.

35.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Walczak-Sztulpa J, Eggenschwiler J, Osborn D, Brown DA, Emma F, Klingenberg C, Hennekam RC, Torre G, Garshasbi M, Tzschach A, Szczepanska M, Krawczynski M, Zachwieja J, Zwolinska D, Beales PL, Ropers HH, Latos-Bielenska A, Kuss AW.

Am J Hum Genet. 2010 Jun 11;86(6):949-56. doi: 10.1016/j.ajhg.2010.04.012. Epub 2010 May 20.

36.

Physical activities among other types of health-related behaviour in people losing weight.

Lipowski M, Buliński L, Krawczyński M.

Med Sci Monit. 2009 Aug;15(8):CR423-8.

PMID:
19644420
37.

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bieleńska A.

J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687.

PMID:
19638688
38.

Parental age as a risk factor for isolated congenital malformations in a Polish population.

Materna-Kiryluk A, Wiśniewska K, Badura-Stronka M, Mejnartowicz J, Wieckowska B, Balcar-Boroń A, Czerwionka-Szaflarska M, Gajewska E, Godula-Stuglik U, Krawczyński M, Limon J, Rusin J, Sawulicka-Oleszczuk H, Szwalkiewicz-Warowicka E, Walczak M, Latos-Bieleńska A.

Paediatr Perinat Epidemiol. 2009 Jan;23(1):29-40. doi: 10.1111/j.1365-3016.2008.00979.x.

PMID:
19228312
39.

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.

Birth Defects Res A Clin Mol Teratol. 2009 Mar;85(3):211-5. doi: 10.1002/bdra.20555.

PMID:
19180633
40.

Granular corneal dystrophy in 830-nm spectral optical coherence tomography.

Kaluzny BJ, Szkulmowska A, Szkulmowski M, Bajraszewski T, Wawrocka A, Krawczynski MR, Kowalczyk A, Wojtkowski M.

Cornea. 2008 Aug;27(7):830-2. doi: 10.1097/ICO.0b013e31816be90f.

PMID:
18650671
41.

[Genetic basis of hereditary optic atrophies].

Wawrocka A, Krawczyński MR.

Klin Oczna. 2007;109(10-12):470-4. Review. Polish.

PMID:
18488399
42.

A new case of DOOR syndrome.

Wiśniewska M, Siwińska Z, Felczak M, Wielkoszyński T, Krawczyński M, Latos-Bieleńska A.

J Appl Genet. 2008;49(1):101-3. doi: 10.1007/BF03195254.

PMID:
18263975
43.

[Genetic ground of primary open angle glaucoma].

Krawczyński MR.

Klin Oczna. 2004;106(4-5):695-8. Review. Polish.

PMID:
15646497
44.

[Study of TIGR gene in patients with primary open angle glaucoma].

Krawczyński MR, Czarny-Ratajczak M, Pecold K, Latos-Bieleńska A.

Klin Oczna. 2004;106(4-5):564-8. Polish.

PMID:
15646469
45.

Faecal elastase-1 test is superior to faecal lipase test in the assessment of exocrine pancreatic function in cystic fibrosis.

Walkowiak J, Lisowska A, Przyslawski J, Grzymislawski M, Krawczynski M, Herzig KH.

Acta Paediatr. 2004 Aug;93(8):1042-5.

PMID:
15456193
46.

[Importance of family examination in juvenile X-linked retinoschisis].

Kłosowska-Zawadka A, Bernardczyk-Meller J, Gotz-Wieckowska A, Krawczyński M.

Ophthalmologe. 2005 Dec;102(12):1193-9. German.

PMID:
15349747
47.

Giardiasis aggravates malabsorption in cystic fibrosis.

Walkowiak J, Krawczynski M, Herzig KH.

Scand J Gastroenterol. 2004 Jun;39(6):607-8. No abstract available.

PMID:
15223689
48.

PCD and RP: X-linked inheritance of both disorders?

Krawczyński MR, Witt M.

Pediatr Pulmonol. 2004 Jul;38(1):88-9.

PMID:
15170879
49.

Only neutral polymorphisms found in the TIGR/myocilin gene of 45 Polish patients with primary open-angle glaucoma.

Krawczyński MR, Czarny-Ratajczak M, Pecold K, Latos-Bieleńska A.

J Appl Genet. 2004;45(2):275-9.

PMID:
15131358
50.

[Pediatric obstructive sleep disordered breathing].

Gryczyńska D, Łapienis M, Powajbo K, Krawczyński M.

Otolaryngol Pol. 2004;58(1):227-31. Review. Polish.

PMID:
15101285

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