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Items: 1 to 20 of 1309

1.

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.

Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11.

PMID:
26358559
2.

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.

3.

Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.

Orrico A, Galli L, Clayton-Smith J, Fryns JP.

Eur J Hum Genet. 2015 Apr;23(4). doi: 10.1038/ejhg.2014.178. Epub 2014 Sep 17. No abstract available.

4.

Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome.

Uzak AS, Fryns JP, Dundar M.

Genet Couns. 2014;25(2):159-69.

PMID:
25059014
5.

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects.

Bauters M, Frints SG, Van Esch H, Spruijt L, Baldewijns MM, de Die-Smulders CE, Fryns JP, Marynen P, Froyen G.

Am J Med Genet A. 2014 Aug;164A(8):1947-52. doi: 10.1002/ajmg.a.36580. Epub 2014 Apr 15.

PMID:
24737742
6.

Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings.

Mesens T, Witters I, Van Robaeys J, Peeters H, Fryns JP.

Genet Couns. 2013;24(4):367-71.

PMID:
24551978
7.

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

Brady PD, Delle Chiaie B, Christenhusz G, Dierickx K, Van Den Bogaert K, Menten B, Janssens S, Defoort P, Roets E, Sleurs E, Keymolen K, De Catte L, Deprest J, de Ravel T, Van Esch H, Fryns JP, Devriendt K, Vermeesch JR.

Genet Med. 2014 Jun;16(6):469-76. doi: 10.1038/gim.2013.168. Epub 2013 Oct 31.

PMID:
24177055
8.

Twin reversed arterial perfusion sequence presenting as intrauterine cyst.

Witters I, Coumans A, Willekes C, Fryns JP.

Ultrasound Obstet Gynecol. 2013 Dec;42(6):724-5. doi: 10.1002/uog.13226. No abstract available.

9.

A comparative study on culture conditions and routine expansion of amniotic fluid-derived mesenchymal progenitor cells.

Gucciardo L, Ochsenbein-Kölble N, Ozog Y, Verbist G, Van Duppen V, Fryns JP, Lories R, Deprest J.

Fetal Diagn Ther. 2013;34(4):225-35. doi: 10.1159/000354895. Epub 2013 Oct 10.

PMID:
24134897
10.

Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia.

Brady PD, DeKoninck P, Fryns JP, Devriendt K, Deprest JA, Vermeesch JR.

Prenat Diagn. 2013 Dec;33(13):1283-92. doi: 10.1002/pd.4244. Epub 2013 Nov 14.

PMID:
24122781
11.

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.

Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M, Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfeld J, Andrieux J, Delobel B, Dehouck MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G.

Hum Genet. 2013 Oct;132(10):1177-85. doi: 10.1007/s00439-013-1322-3. Epub 2013 Jun 20.

PMID:
23783460
12.

Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles.

Souren NY, Lutsik P, Gasparoni G, Tierling S, Gries J, Riemenschneider M, Fryns JP, Derom C, Zeegers MP, Walter J.

Genome Biol. 2013 May 26;14(5):R44. doi: 10.1186/gb-2013-14-5-r44.

13.

Fetal hydrometrocolpos, uterus didelphys with low vaginal and anal atresia: difficulties in differentiation from a complex cloacal malformation: a case report.

Witters I, Meylaerts L, Peeters H, Coumans A, Wirjosoekarto S, Fryns JP.

Genet Couns. 2012;23(4):513-7.

PMID:
23431753
14.

NRAS Mutations in Noonan Syndrome.

Denayer E, Peeters H, Sevenants L, Derbent M, Fryns JP, Legius E.

Mol Syndromol. 2012 Jun;3(1):34-38. Epub 2012 May 3.

15.

Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss.

Robberecht C, Pexsters A, Deprest J, Fryns JP, D'Hooghe T, Vermeesch JR.

Prenat Diagn. 2012 Oct;32(10):933-42. doi: 10.1002/pd.3936. Epub 2012 Jul 4.

PMID:
22763612
16.

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

Isrie M, Froyen G, Devriendt K, de Ravel T, Fryns JP, Vermeesch JR, Van Esch H.

Eur J Med Genet. 2012 Nov;55(11):577-85. doi: 10.1016/j.ejmg.2012.05.005. Epub 2012 May 30.

PMID:
22659343
17.

A new syndrome: multiple congenital abnormalities and mental retardation in two brothers.

Dundar M, Ozdemir SY, Fryns JP.

Genet Couns. 2012;23(1):13-8.

PMID:
22611637
18.

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism.

Robberecht C, Voet T, Utine GE, Schinzel A, de Leeuw N, Fryns JP, Vermeesch J.

Mol Cytogenet. 2012 Apr 10;5:19. doi: 10.1186/1755-8166-5-19.

19.

A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.

Hannes F, Hammond P, Quarrell O, Fryns JP, Devriendt K, Vermeesch JR.

Am J Med Genet A. 2012 May;158A(5):996-1004. doi: 10.1002/ajmg.a.35299. Epub 2012 Mar 21.

PMID:
22438245
20.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Van Houdt JK, Nowakowska BA, Sousa SB, van Schaik BD, Seuntjens E, Avonce N, Sifrim A, Abdul-Rahman OA, van den Boogaard MJ, Bottani A, Castori M, Cormier-Daire V, Deardorff MA, Filges I, Fryer A, Fryns JP, Gana S, Garavelli L, Gillessen-Kaesbach G, Hall BD, Horn D, Huylebroeck D, Klapecki J, Krajewska-Walasek M, Kuechler A, Lines MA, Maas S, Macdermot KD, McKee S, Magee A, de Man SA, Moreau Y, Morice-Picard F, Obersztyn E, Pilch J, Rosser E, Shannon N, Stolte-Dijkstra I, Van Dijck P, Vilain C, Vogels A, Wakeling E, Wieczorek D, Wilson L, Zuffardi O, van Kampen AH, Devriendt K, Hennekam R, Vermeesch JR.

Nat Genet. 2012 Feb 26;44(4):445-9, S1. doi: 10.1038/ng.1105.

PMID:
22366787
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