PubMed

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila.

Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A.

Am J Hum Genet. 2009 Nov;85(5):655-66. Epub 2009 Nov 5.PMID: 19896112 [PubMed - in process]Related articles

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG.

Ann Hum Genet. 2009 May;73(Pt 3):283-91. Epub 2009 Mar 25.PMID: 19344451 [PubMed - indexed for MEDLINE]Related articles

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development.

Cisse B, Caton ML, Lehner M, Maeda T, Scheu S, Locksley R, Holmberg D, Zweier C, den Hollander NS, Kant SG, Holter W, Rauch A, Zhuang Y, Reizis B.

Cell. 2008 Oct 3;135(1):37-48.PMID: 18854153 [PubMed - indexed for MEDLINE]Related articlesFree article

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, Kant SG, King MD, Lynch SA, McKee S, Midro AT, Park SM, Ricotti V, Tarantino E, Wessels M, Peippo M, Rauch A.

J Med Genet. 2008 Nov;45(11):738-44. Epub 2008 Aug 26.PMID: 18728071 [PubMed - indexed for MEDLINE]Related articles

A 15Mb duplication of 6q24.1-q25.3 associated with typical but milder features of the duplication 6q syndrome.

Zweier C, Trautmann U, Ekici A, Rauch A.

Eur J Med Genet. 2008 Jul-Aug;51(4):358-61. Epub 2008 Feb 8.PMID: 18342594 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 Jan 3.PMID: 18174396 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.

Huehne K, Zweier C, Raab K, Odent S, Bonnaure-Mallet M, Sixou JL, Landrieu P, Goizet C, Sarlangue J, Baumann M, Eggermann T, Rauch A, Ruppert S, Stettner GM, Rautenstrauss B.

Neuromuscul Disord. 2008 Feb;18(2):159-66. Epub 2008 Feb 20.PMID: 18077166 [PubMed - indexed for MEDLINE]Related articles

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays.

Hoyer J, Dreweke A, Becker C, Göhring I, Thiel CT, Peippo MM, Rauch R, Hofbeck M, Trautmann U, Zweier C, Zenker M, Hüffmeier U, Kraus C, Ekici AB, Rüschendorf F, Nürnberg P, Reis A, Rauch A.

J Med Genet. 2007 Oct;44(10):629-36. Epub 2007 Jun 29.PMID: 17601928 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 17586837 [PubMed - indexed for MEDLINE]Related articles

Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome.

Strenge S, Heinritz W, Zweier C, Rauch A, Rolle U, Merkenschlager A, Froster UG.

Am J Med Genet A. 2007 Jul 1;143A(13):1528-30. No abstract available. PMID: 17567886 [PubMed - indexed for MEDLINE]Related articles

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Gohring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RC, Orrico A, Cohen M, Dreweke A, Reis A, Nurnberg P, Rauch A.

Am J Hum Genet. 2007 May;80(5):994-1001. Epub 2007 Mar 23.PMID: 17436255 [PubMed - indexed for MEDLINE]Related articlesFree article

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Zweier C, Sticht H, Aydin-Yaylagül I, Campbell CE, Rauch A.

Am J Hum Genet. 2007 Mar;80(3):510-7. Epub 2007 Jan 18.PMID: 17273972 [PubMed - indexed for MEDLINE]Related articlesFree article

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U.

Am J Med Genet A. 2006 Oct 1;140(19):2063-74.PMID: 16917849 [PubMed - indexed for MEDLINE]Related articles

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.

Am J Med Genet A. 2006 Jun 1;140(11):1223-7.PMID: 16688751 [PubMed - indexed for MEDLINE]Related articles

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Michael Gibson K, Lachmann E, Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I.

Mol Genet Metab. 2006 Jul;88(3):256-60. Epub 2006 Mar 20.PMID: 16545979 [PubMed - indexed for MEDLINE]Related articles

Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.

Zweier C, Horn D, Kraus C, Rauch A.

Am J Med Genet A. 2006 Apr 15;140(8):869-72. Review.PMID: 16532472 [PubMed - indexed for MEDLINE]Related articles

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.

Thiel CT, Horn D, Zabel B, Ekici AB, Salinas K, Gebhart E, Rüschendorf F, Sticht H, Spranger J, Müller D, Zweier C, Schmitt ME, Reis A, Rauch A.

Am J Hum Genet. 2005 Nov;77(5):795-806. Epub 2005 Sep 29.PMID: 16252239 [PubMed - indexed for MEDLINE]Related articlesFree article

9 Mb deletion including chromosome band 3q24 associated with unsuspicious facial gestalt, persistent ductus omphaloentericus, mild mental retardation and tic.

Zweier C, Guth S, Schulte-Mattler U, Rauch A, Trautmann U.

Eur J Med Genet. 2005 Jul-Sep;48(3):360-2.PMID: 16179233 [PubMed - indexed for MEDLINE]Related articles

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Müllner-Eidenböck A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR.

J Med Genet. 2006 May;43(5):406-13. Epub 2005 Sep 9.PMID: 16155195 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articles

Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review.

Garavelli L, Cerruti-Mainardi P, Virdis R, Pedori S, Pastore G, Godi M, Provera S, Rauch A, Zweier C, Zollino M, Banchini G, Longo N, Mowat D, Neri G, Bernasconi S.

Horm Res. 2005;63(4):187-92. Epub 2005 May 20.PMID: 15908750 [PubMed - indexed for MEDLINE]Related articles

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Hüffmeier U, Weyand M, Singer H, Hofbeck M.

J Med Genet. 2005 Nov;42(11):871-6. Epub 2005 Apr 14.PMID: 15831592 [PubMed - indexed for MEDLINE]Related articlesFree article

Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.

Cerruti Mainardi P, Pastore G, Zweier C, Rauch A.

J Med Genet. 2004 Feb;41(2):e16. No abstract available. PMID: 14757866 [PubMed - indexed for MEDLINE]Related articlesFree article

Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease.

Horn D, Weschke B, Zweier C, Rauch A.

Am J Med Genet A. 2004 Jan 1;124A(1):102-4. No abstract available. PMID: 14679597 [PubMed - indexed for MEDLINE]Related articles

Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.

Zweier C, Temple IK, Beemer F, Zackai E, Lerman-Sagie T, Weschke B, Anderson CE, Rauch A.

J Med Genet. 2003 Aug;40(8):601-5. No abstract available. PMID: 12920073 [PubMed - indexed for MEDLINE]Related articlesFree article

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome.

Garavelli L, Donadio A, Zanacca C, Banchini G, Della Giustina E, Bertani G, Albertini G, Del Rossi C, Zweier C, Rauch A, Zollino M, Neri G.

Am J Med Genet A. 2003 Feb 1;116A(4):385-8. No abstract available. PMID: 12522797 [PubMed - indexed for MEDLINE]Related articles

"Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.

Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A.

Am J Med Genet. 2002 Mar 15;108(3):177-81.PMID: 11891681 [PubMed - indexed for MEDLINE]Related articles