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Items: 1 to 20 of 101

1.

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

Walczak-Sztulpa J, Wawrocka A, Sobierajewicz A, Kuszel L, Zawadzki J, Grenda R, Swiader-Lesniak A, Kocyla-Karczmarewicz B, Wnuk A, Latos-Bielenska A, Chrzanowska KH.

Am J Med Genet A. 2017 May;173(5):1364-1368. doi: 10.1002/ajmg.a.38163. Epub 2017 Mar 23.

PMID:
28332779
2.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S.

N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

PMID:
28121514
3.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

Walencka Z, Jamsheer A, Surmiak P, Baumert M, Jezela-Stanek A, Witek A, Materna-Kiryluk A, Latos-Bieleńska A, Socha M, Sowińska-Seidler A.

Ginekol Pol. 2016;87(10):706-710. doi: 10.5603/GP.2016.0072.

4.

EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication.

Luteijn JM, Morris JK, Garne E, Given J, de Jong-van den Berg L, Addor MC, Bakker M, Barisic I, Gatt M, Klungsoyr K, Latos-Bielenska A, Lelong N, Nelen V, Neville A, O'Mahony M, Pierini A, Tucker D, de Walle H, Wiesel A, Loane M, Dolk H.

Br J Clin Pharmacol. 2016 Oct;82(4):1110-22. doi: 10.1111/bcp.13056. Epub 2016 Aug 4.

PMID:
27353147
5.

Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.

Koumbaris G, Kypri E, Tsangaras K, Achilleos A, Mina P, Neofytou M, Velissariou V, Christopoulou G, Kallikas I, González-Liñán A, Benusiene E, Latos-Bielenska A, Marek P, Santana A, Nagy N, Széll M, Laudanski P, Papageorgiou EA, Ioannides M, Patsalis PC.

Clin Chem. 2016 Jun;62(6):848-55. doi: 10.1373/clinchem.2015.252502. Epub 2016 Apr 26.

PMID:
27117469
6.

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies.

Dolk H, Wang H, Loane M, Morris J, Garne E, Addor MC, Arriola L, Bakker M, Barisic I, Doray B, Gatt M, Kallen K, Khoshnood B, Klungsoyr K, Lahesmaa-Korpinen AM, Latos-Bielenska A, Mejnartowicz JP, Nelen V, Neville A, O'Mahony M, Pierini A, Rißmann A, Tucker D, Wellesley D, Wiesel A, de Jong-van den Berg LT.

Neurology. 2016 May 3;86(18):1716-25. doi: 10.1212/WNL.0000000000002540. Epub 2016 Apr 6.

7.

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T.

J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31.

PMID:
27030147
8.

EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations.

Given JE, Loane M, Luteijn JM, Morris JK, de Jong van den Berg LT, Garne E, Addor MC, Barisic I, de Walle H, Gatt M, Klungsoyr K, Khoshnood B, Latos-Bielenska A, Nelen V, Neville AJ, O'Mahony M, Pierini A, Tucker D, Wiesel A, Dolk H.

Br J Clin Pharmacol. 2016 Oct;82(4):1094-109. doi: 10.1111/bcp.12947. Epub 2016 Jul 7.

9.

Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM).

Materna-Kiryluk A, Więckowska B, Wiśniewska K, Czyżewska M, Godula-Stuglik U, Baumert M, Margol R, Latos-Bieleńska A.

Int J Occup Med Environ Health. 2016;29(3):461-70. doi: 10.13075/ijomeh.1896.00624.

10.

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report.

Winczewska-Wiktor A, Badura-Stronka M, Monies-Nowicka A, Nowicki MM, Steinborn B, Latos-Bieleńska A, Monies D.

BMC Neurol. 2016 Mar 12;16:35. doi: 10.1186/s12883-016-0554-y.

11.

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.

J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14.

PMID:
26763883
12.

Long term trends in prevalence of neural tube defects in Europe: population based study.

Khoshnood B, Loane M, de Walle H, Arriola L, Addor MC, Barisic I, Beres J, Bianchi F, Dias C, Draper E, Garne E, Gatt M, Haeusler M, Klungsoyr K, Latos-Bielenska A, Lynch C, McDonnell B, Nelen V, Neville AJ, O'Mahony MT, Queisser-Luft A, Rankin J, Rissmann A, Ritvanen A, Rounding C, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H.

BMJ. 2015 Nov 24;351:h5949. doi: 10.1136/bmj.h5949.

13.

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J.

Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6.

PMID:
26443594
14.

[Human papilloma virus genotyping in women with abnormal cytology].

Olejniczak T, Rabiega-Gmyrek D, Niepsuj-Biniaś J, Jachowski P, Guglas-Bochyńska B, Latos- Bieleńska A, Woźniak J, Opala T.

Ginekol Pol. 2015 Jul;86(7):541-6. Polish.

PMID:
26376534
15.

[Chromosomal aberrations--the cause of spontaneous abortions].

Rabiega-Gmyrek D, Olejniczak T, Niepsuj-Biniaś J, Guglas-Bochyńska B, Jachowski P, Latos-Bieleńska A, Opala T.

Ginekol Pol. 2015 May;86(5):357-61. Polish.

PMID:
26117973
16.

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.

Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16.

PMID:
25792522
17.

The detection of areas in Poland with an increased prevalence of isolated cleft lip with or without cleft palate.

Więckowska B, Materna-Kiryluk A, Wiśniewska K, Kossowski T, Latos-Bieleńska A.

Ann Agric Environ Med. 2015;22(1):110-7. doi: 10.5604/12321966.1141379.

18.

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Badura-Stronka M, Mróz D, Beighton P, Łukawiecki S, Wicher K, Latos-Bieleńska A, Kozłowski K.

Birth Defects Res A Clin Mol Teratol. 2015 Jun;103(6):567-72. doi: 10.1002/bdra.23354. Epub 2015 Mar 16.

PMID:
25776145
19.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.

Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3.

20.

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

McGivern MR, Best KE, Rankin J, Wellesley D, Greenlees R, Addor MC, Arriola L, de Walle H, Barisic I, Beres J, Bianchi F, Calzolari E, Doray B, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Latos-Bielenska A, O'Mahony M, Braz P, McDonnell B, Mullaney C, Nelen V, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wertelecki W, Martos C.

Arch Dis Child Fetal Neonatal Ed. 2015 Mar;100(2):F137-44. doi: 10.1136/archdischild-2014-306174. Epub 2014 Nov 19.

PMID:
25411443

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