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Items: 1 to 50 of 131

1.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.

Karaca E, Posey JE, Bostwick B, Liu P, Gezdirici A, Yesil G, Coban Akdemir Z, Bayram Y, Harms FL, Meinecke P, Alawi M, Bacino CA, Sutton VR, Kortüm F, Lupski JR.

Am J Med Genet A. 2019 Oct;179(10):2056-2066. doi: 10.1002/ajmg.a.61315. Epub 2019 Aug 13.

PMID:
31407851
2.

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.

Kortüm F, Marquardt I, Alawi M, Korenke GC, Spranger S, Meinecke P, Kutsche K.

Pediatrics. 2017 Jan;139(1). pii: e20160550. doi: 10.1542/peds.2016-0550.

3.

Who gets dipyrone (metamizole) in Germany? Prescribing by age, sex and region.

Hoffmann F, Meinecke P, Freitag MH, Glaeske G, Schulze J, Schmiemann G.

J Clin Pharm Ther. 2015 Jun;40(3):285-8. doi: 10.1111/jcpt.12261. Epub 2015 Mar 16.

PMID:
25776531
4.

Next-generation sequencing in X-linked intellectual disability.

Tzschach A, Grasshoff U, Beck-Woedl S, Dufke C, Bauer C, Kehrer M, Evers C, Moog U, Oehl-Jaschkowitz B, Di Donato N, Maiwald R, Jung C, Kuechler A, Schulz S, Meinecke P, Spranger S, Kohlhase J, Seidel J, Reif S, Rieger M, Riess A, Sturm M, Bickmann J, Schroeder C, Dufke A, Riess O, Bauer P.

Eur J Hum Genet. 2015 Nov;23(11):1513-8. doi: 10.1038/ejhg.2015.5. Epub 2015 Feb 4.

5.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A, Horn D.

BMC Med Genet. 2014 Nov 30;15:127. doi: 10.1186/s12881-014-0127-0.

6.

Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.

Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M.

Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8.

PMID:
24924640
7.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH.

Eur J Med Genet. 2013 Dec;56(12):678-82. doi: 10.1016/j.ejmg.2013.09.009. Epub 2013 Oct 28.

8.

Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.

Jae LT, Raaben M, Riemersma M, van Beusekom E, Blomen VA, Velds A, Kerkhoven RM, Carette JE, Topaloglu H, Meinecke P, Wessels MW, Lefeber DJ, Whelan SP, van Bokhoven H, Brummelkamp TR.

Science. 2013 Apr 26;340(6131):479-83. doi: 10.1126/science.1233675. Epub 2013 Mar 21.

9.

Tramps, narrow endemics and morphologically cryptic species in the epiphyllous liverwort Diplasiolejeunea.

Dong S, Schäfer-Verwimp A, Meinecke P, Feldberg K, Bombosch A, Pócs T, Schmidt AR, Reitner J, Schneider H, Heinrichs J.

Mol Phylogenet Evol. 2012 Nov;65(2):582-94. doi: 10.1016/j.ympev.2012.07.009. Epub 2012 Jul 25.

PMID:
22842092
10.

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.

Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA.

Clin Genet. 2012 Aug;82(2):140-6. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.

11.

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum.

Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P.

Am J Med Genet A. 2011 Aug;155A(8):1917-22. doi: 10.1002/ajmg.a.34102. Epub 2011 Jul 7.

PMID:
21739589
12.

Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hübner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafé L, Spranger J, Unger S, Zabel B, Superti-Furga A.

Nat Genet. 2011 Feb;43(2):132-7. doi: 10.1038/ng.749. Epub 2011 Jan 9.

PMID:
21217752
13.

Wiedemann-Steiner syndrome: three further cases.

Koenig R, Meinecke P, Kuechler A, Schäfer D, Müller D.

Am J Med Genet A. 2010 Sep;152A(9):2372-5. doi: 10.1002/ajmg.a.33587.

PMID:
20803650
14.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN.

Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29.

PMID:
20802478
15.

A de novo unbalanced translocation leading to partial monosomy 9p23-pter and partial trisomy 15q25.3-qter associated with 46,XY complete gonadal dysgenesis, tall stature and mental retardation.

Argyriou L, Hiort O, Meinecke P, Wünsch L, Volleth M, Hinrichs F, Caliebe A, Gillessen-Kaesbach G.

Clin Dysmorphol. 2010 Oct;19(4):190-4. doi: 10.1097/MCD.0b013e32833c8ba1.

PMID:
20671549
16.

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Thompson MD, Nezarati MM, Gillessen-Kaesbach G, Meinecke P, Mendoza-Londono R, Mornet E, Brun-Heath I, Squarcioni CP, Legeai-Mallet L, Munnich A, Cole DE.

Am J Med Genet A. 2010 Jul;152A(7):1661-9. doi: 10.1002/ajmg.a.33438. Erratum in: Am J Med Genet A. 2011 May;155A(5):1215. Mendoza, Roberto [corrected to Mendoza-Londono, Roberto].

PMID:
20578257
17.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A.

Am J Med Genet A. 2010 Apr;152A(4):875-85. doi: 10.1002/ajmg.a.33347.

PMID:
20358597
18.

Mosaic and complete tetraploidy in live-born infants: two new patients and review of the literature.

Stefanova I, Jenderny J, Kaminsky E, Mannhardt A, Meinecke P, Grozdanova L, Gillessen-Kaesbach G.

Clin Dysmorphol. 2010 Jul;19(3):123-7. doi: 10.1097/MCD.0b013e3283353877. Review.

PMID:
20305547
19.

Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.

Horn D, Schottmann G, Meinecke P.

Eur J Med Genet. 2010 Mar-Apr;53(2):85-8. doi: 10.1016/j.ejmg.2010.01.002. Epub 2010 Jan 18.

PMID:
20080219
20.

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S.

Am J Hum Genet. 2009 Apr;84(4):483-92. doi: 10.1016/j.ajhg.2009.03.001. Epub 2009 Mar 26.

21.

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Harmsen MB, Azzarello-Burri S, García González MM, Gillessen-Kaesbach G, Meinecke P, Müller D, Rauch A, Rossier E, Seemanova E, Spaich C, Steiner B, Wieczorek D, Zenker M, Kutsche K.

Eur J Hum Genet. 2009 Oct;17(10):1207-15. doi: 10.1038/ejhg.2009.40. Epub 2009 Mar 11.

22.

Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father.

Mitter D, Krakow D, Farrington-Rock C, Meinecke P.

Am J Med Genet A. 2008 Mar 15;146A(6):779-83. doi: 10.1002/ajmg.a.32230.

PMID:
18257094
23.

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A.

Science. 2008 Feb 8;319(5864):816-9. doi: 10.1126/science.1151174. Epub 2008 Jan 3.

24.

Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, Heller R, Horn D, Hübner CA, Korenke GC, König R, Kress W, Krüger G, Meinecke P, Mücke J, Plecko B, Rossier E, Schinzel A, Schulze A, Seemanova E, Seidel H, Spranger S, Tuysuz B, Uhrig S, Wieczorek D, Kutsche K, Zenker M.

Clin Genet. 2008 Jan;73(1):62-70. Epub 2007 Nov 27.

PMID:
18042262
25.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.

Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA.

Eur J Hum Genet. 2008 Jan;16(1):28-35. Epub 2007 Oct 31.

26.

Location and type of mutation in the LIS1 gene do not predict phenotypic severity.

Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J.

Neurology. 2007 Jul 31;69(5):442-7.

PMID:
17664403
27.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K.

J Med Genet. 2007 Oct;44(10):651-6. Epub 2007 Jun 23.

28.

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A.

Am J Hum Genet. 2007 Mar;80(3):550-60. Epub 2007 Jan 29.

29.

A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.

Niedernhofer LJ, Garinis GA, Raams A, Lalai AS, Robinson AR, Appeldoorn E, Odijk H, Oostendorp R, Ahmad A, van Leeuwen W, Theil AF, Vermeulen W, van der Horst GT, Meinecke P, Kleijer WJ, Vijg J, Jaspers NG, Hoeijmakers JH.

Nature. 2006 Dec 21;444(7122):1038-43.

PMID:
17183314
30.

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K.

J Med Genet. 2007 Feb;44(2):131-5. Epub 2006 Oct 20.

31.

Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K.

Am J Hum Genet. 2006 Nov;79(5):878-89. Epub 2006 Sep 6.

32.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.

Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D.

J Med Genet. 2006 May;43(5):e22.

33.

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.

Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D.

Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. Epub 2005 Jun 8.

PMID:
16378924
34.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

PMID:
16053902
35.

An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

Lehmann K, Mundlos S, Meinecke P.

Eur J Pediatr. 2005 Aug;164(8):530-1. Epub 2005 May 12. No abstract available.

PMID:
15889277
36.

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

Stefanova M, Meinecke P, Gal A, Bolz H.

Am J Med Genet A. 2005 Feb 1;132A(4):386-90.

PMID:
15654694
37.

Familial megalencephaly with dilated Virchow-Robin spaces in magnetic resonance imaging: an autosomal recessive trait?

Härtel C, Bachmann S, Bönnemann C, Meinecke P, Sperner J.

Clin Dysmorphol. 2005 Jan;14(1):31-4.

PMID:
15602091
38.

A second case of Devriendt syndrome.

Koenig R, Meinecke P, Fuchs S.

Clin Dysmorphol. 2005 Jan;14(1):19-22.

PMID:
15602088
39.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.

So J, Suckow V, Kijas Z, Kalscheuer V, Moser B, Winter J, Baars M, Firth H, Lunt P, Hamel B, Meinecke P, Moraine C, Odent S, Schinzel A, van der Smagt JJ, Devriendt K, Albrecht B, Gillessen-Kaesbach G, van der Burgt I, Petrij F, Faivre L, McGaughran J, McKenzie F, Opitz JM, Cox T, Schweiger S.

Am J Med Genet A. 2005 Jan 1;132A(1):1-7.

PMID:
15558842
40.

Disruption of the PDGFB gene in a 1;22 translocation patient does not cause Costello syndrome.

Sutajová M, Neukirchen U, Meinecke P, Czeizel AE, Tímár L, Sólyom E, Gal A, Kutsche K.

Genomics. 2004 May;83(5):883-92.

PMID:
15081117
41.

Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.

Wuyts W, Waeber G, Meinecke P, Schüler H, Goecke TO, Van Hul W, Bartsch O.

Eur J Hum Genet. 2004 May;12(5):400-6. Review.

42.

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D.

Eur J Hum Genet. 2003 Nov;11(11):858-65.

43.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome.

Tröger B, Kutsche K, Bolz H, Lüttgen S, Gal A, Almassy Z, Caliebe A, Freisinger P, Hobbiebrunken E, Morlot M, Stefanova M, Streubel B, Wieczorek D, Meinecke P.

Am J Med Genet A. 2003 Aug 15;121A(1):82-4. No abstract available.

PMID:
12900909
44.

Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp.

Kutsche K, Werner W, Bartsch O, von der Wense A, Meinecke P, Gal A.

Cytogenet Genome Res. 2002;99(1-4):297-302.

PMID:
12900578
45.

Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM.

Eur J Hum Genet. 2003 Feb;11(2):201-6. Erratum in: Eur J Hum Genet. 2003 Jul;11(7):551.

46.

Defective clavicles in Kabuki syndrome.

Hinrichs B, Gramss B, Meinecke P.

Genet Couns. 2002;13(4):477-9. No abstract available.

PMID:
12558121
47.

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

Bartsch O, Locher K, Meinecke P, Kress W, Seemanová E, Wagner A, Ostermann K, Rödel G.

J Med Genet. 2002 Jul;39(7):496-501. No abstract available.

48.

Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.

Wieczorek D, Wüsthof A, Harms E, Meinecke P.

Am J Med Genet. 2001 Nov 15;104(1):47-52.

PMID:
11746027
49.

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.

Unger S, Le Merrer M, Meinecke P, Chitayat D, Rossi A, Superti-Furga A.

Pediatr Radiol. 2001 Dec;31(12):893-4. No abstract available.

PMID:
11727031
50.

Burning down DEFECT11.

Wuyts W, Van Hul W, Bartsch O, Wilkie AO, Meinecke P.

Am J Med Genet. 2001 May 15;100(4):331-5. No abstract available.

PMID:
11343325

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