Lowry RB - Search Results

1

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. Among authors: lowry rb. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.

2

Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up.

Lowry RB, Gould DB, Walter MA, Savage PR. Lowry RB, et al. Am J Med Genet A. 2007 Jun 1;143A(11):1227-30. doi: 10.1002/ajmg.a.31732. Am J Med Genet A. 2007. PMID: 17486624

3

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. Reis LM, et al. Among authors: lowry rb. Eur J Hum Genet. 2012 Dec;20(12):1224-33. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9. Eur J Hum Genet. 2012. PMID: 22569110 Free PMC article.

4

Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.

Lowry RB, Yong SL. Lowry RB, et al. J Med Genet. 1991 Feb;28(2):135-7. doi: 10.1136/jmg.28.2.135. J Med Genet. 1991. PMID: 2002486 Free PMC article.

5

Overlap between Rubinstein-Taybi and Saethre-Chotzen syndromes: a case report.

Lowry RB. Lowry RB. Am J Med Genet Suppl. 1990;6:73-6. doi: 10.1002/ajmg.1320370613. Am J Med Genet Suppl. 1990. PMID: 2118783

6

Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa.

Lowry RB, Wood BJ, Cox TA, Hayden MR. Lowry RB, et al. Am J Med Genet. 1989 Jul;33(3):341-5. doi: 10.1002/ajmg.1320330311. Am J Med Genet. 1989. PMID: 2801768

7

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.

Chudley AE, Lowry RB, Hoar DI. Chudley AE, et al. Among authors: lowry rb. Am J Med Genet. 1988 Dec;31(4):741-51. doi: 10.1002/ajmg.1320310404. Am J Med Genet. 1988. PMID: 3239563

8

Syndrome of multiple epiphyseal dysplasia (ribbing type) with rhizomelic shortness, cleft palate, and micrognathia in two unrelated patients.

Lowry RB, Wesenberg RL, Hall JG. Lowry RB, et al. Am J Med Genet. 1996 May 3;63(1):55-61. doi: 10.1002/(SICI)1096-8628(19960503)63:1<55::AID-AJMG12>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8723087

9

Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.

Lowry RB, Jabs EW, Graham GE, Gerritsen J, Fleming J. Lowry RB, et al. Am J Med Genet. 2001 Nov 22;104(2):112-9. doi: 10.1002/ajmg.10049. Am J Med Genet. 2001. PMID: 11746040

10

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. Zweier C, et al. Among authors: lowry rb. Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. doi: 10.1016/j.ejmg.2005.01.003. Epub 2005 Feb 25. Eur J Med Genet. 2005. PMID: 16053902

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