PubMed

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE.

J Med Genet. 2007 Jul;44(7):472-7. Epub 2007 Mar 16.PMID: 17369503 [PubMed - indexed for MEDLINE]Related articles

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE.

Am J Hum Genet. 2005 Jul;77(1):41-53. Epub 2005 May 11.PMID: 15889350 [PubMed - indexed for MEDLINE]Related articlesFree article

Renpenning syndrome comes into focus.

Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE.

Am J Med Genet A. 2005 May 1;134(4):415-21.PMID: 15782410 [PubMed - indexed for MEDLINE]Related articles

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor.

Ramser J, Abidi FE, Burckle CA, Lenski C, Toriello H, Wen G, Lubs HA, Engert S, Stevenson RE, Meindl A, Schwartz CE, Nguyen G.

Hum Mol Genet. 2005 Apr 15;14(8):1019-27. Epub 2005 Mar 3.PMID: 15746149 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome.

Abidi FE, Cardoso C, Lossi AM, Lowry RB, Depetris D, Mattéi MG, Lubs HA, Stevenson RE, Fontes M, Chudley AE, Schwartz CE.

Eur J Hum Genet. 2005 Feb;13(2):176-83.PMID: 15508018 [PubMed - indexed for MEDLINE]Related articlesFree article

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE.

Am J Hum Genet. 2004 Apr;74(4):777-80. No abstract available. PMID: 15024694 [PubMed - indexed for MEDLINE]Related articlesFree article

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE.

Eur J Hum Genet. 2003 Dec;11(12):937-44.PMID: 14508504 [PubMed - indexed for MEDLINE]Related articlesFree article

Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.

Stocco dos Santos RC, Castro NH, Lillia Holmes A, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE.

Am J Med Genet A. 2003 Apr 30;118A(3):255-9.PMID: 12673656 [PubMed - indexed for MEDLINE]Related articles

Shashi XLMR syndrome: report of a second family.

Castro NH, dos Santos RC, Nelson R, Beçak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE.

Am J Med Genet A. 2003 Apr 1;118A(1):49-51.PMID: 12605440 [PubMed - indexed for MEDLINE]Related articles

A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58.

Abidi FE, Holinski-Feder E, Rittinger O, Kooy F, Lubs HA, Stevenson RE, Schwartz CE.

J Med Genet. 2002 Jun;39(6):430-3. No abstract available. PMID: 12070254 [PubMed - indexed for MEDLINE]Related articlesFree article

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.

Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF.

Am J Hum Genet. 2002 Jul;71(1):168-73. Epub 2002 May 30.PMID: 12068376 [PubMed - indexed for MEDLINE]Related articlesFree article

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE, Schwartz CE.

Clin Genet. 2002 Feb;61(2):139-45.PMID: 11940089 [PubMed - indexed for MEDLINE]Related articles

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE.

Am J Hum Genet. 2002 May;70(5):1349-56. Epub 2002 Mar 15.PMID: 11898126 [PubMed - indexed for MEDLINE]Related articlesFree article

Dr. Ram Verma, cytogeneticist 1946-2000.

Babu A, Lubs HA, Macera M, Patil S, Wyandt H.

Am J Med Genet. 2001 Mar 15;99(3):179-80. No abstract available. PMID: 11241485 [PubMed]Related articles

Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

Stevenson RE, Abidi F, Schwartz CE, Lubs HA, Holmes LB.

Am J Med Genet. 2000 Oct 23;94(5):383-5. No abstract available. PMID: 11050622 [PubMed - indexed for MEDLINE]Related articles

Syndromic XLMR genes (MRXS): update 2000.

Hamel BC, Chiurazzi P, Lubs HA.

Am J Med Genet. 2000 Oct 23;94(5):361-3. Review. No abstract available. PMID: 11050617 [PubMed - indexed for MEDLINE]Related articles

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

Cabezas DA, Slaugh R, Abidi F, Arena JF, Stevenson RE, Schwartz CE, Lubs HA.

J Med Genet. 2000 Sep;37(9):663-8.PMID: 10978355 [PubMed - indexed for MEDLINE]Related articlesFree article

A new gene (DYX3) for dyslexia is located on chromosome 2.

Fagerheim T, Raeymaekers P, Tønnessen FE, Pedersen M, Tranebjaerg L, Lubs HA.

J Med Genet. 1999 Sep;36(9):664-9.PMID: 10507721 [PubMed - indexed for MEDLINE]Related articlesFree article

Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22.

Häne B, Stevenson RE, Arena JF, Lubs HA, Simensen RJ, Schwartz CE.

Am J Med Genet. 1999 Jul 30;85(3):271-5.PMID: 10398242 [PubMed - indexed for MEDLINE]Related articles

X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.

Chudley AE, Tackels DC, Lubs HA, Arena JF, Stoeber WP, Kovnats S, Stevenson RE, Schwartz CE.

Am J Med Genet. 1999 Jul 30;85(3):255-62.PMID: 10398239 [PubMed - indexed for MEDLINE]Related articles

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.

Armfield K, Nelson R, Lubs HA, Häne B, Schroer RJ, Arena F, Schwartz CE, Stevenson RE.

Am J Med Genet. 1999 Jul 30;85(3):236-42.PMID: 10398235 [PubMed - indexed for MEDLINE]Related articles

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.

Abidi F, Hall BD, Cadle RG, Feldman GL, Lubs HA, Ouzts LV, Arena JF, Stevenson RE, Schwartz CE.

Am J Med Genet. 1999 Jul 30;85(3):223-9.PMID: 10398233 [PubMed - indexed for MEDLINE]Related articles

The other side of the coin: a hypothesis concerning the importance of genes for high intelligence and evolution of the X chromosome.

Lubs HA.

Am J Med Genet. 1999 Jul 30;85(3):206-8. No abstract available. PMID: 10398228 [PubMed - indexed for MEDLINE]Related articles

XLMR database.

Cabezas DA, Arena JF, Stevenson RE, Schwartz C, Goldberg S, Morales A, Lubs HA.

Am J Med Genet. 1999 Jul 30;85(3):202-5.PMID: 10398227 [PubMed - indexed for MEDLINE]Related articles

Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997.

Holden JJ, Percy M, Allingham-Hawkins D, Brown WT, Chiurazzi P, Fisch G, Gane L, Gunter C, Hagerman R, Jenkins EC, Kooy RF, Lubs HA, Murray A, Neri G, Schwartz C, Tranebjaerg L, Villard L, Willems PJ.

Am J Med Genet. 1999 Apr 2;83(4):221-36. No abstract available. PMID: 10208154 [PubMed - indexed for MEDLINE]Related articles

Renpenning syndrome maps to Xp11.

Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE.

Am J Hum Genet. 1998 May;62(5):1092-101.PMID: 9545405 [PubMed - indexed for MEDLINE]Related articlesFree article

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

Pai GS, Hane B, Joseph M, Nelson R, Hammond LS, Arena JF, Lubs HA, Stevenson RE, Schwartz CE.

J Med Genet. 1997 Jul;34(7):529-34.PMID: 9222958 [PubMed - indexed for MEDLINE]Related articlesFree article

Paternal exposures and the question of birth defects.

Poynor DH, Lupkiewicz S, Sage SR, Carver VH, Kousseff BG, Lubs HA, Williams CA.

J Fla Med Assoc. 1997 Jun-Jul;84(5):323-6. Review.PMID: 9260438 [PubMed - indexed for MEDLINE]Related articles

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation.

Stevenson RE, Häne B, Arena JF, May M, Lawrence L, Lubs HA, Schwartz CE.

J Med Genet. 1997 Jun;34(6):465-9.PMID: 9192265 [PubMed - indexed for MEDLINE]Related articlesFree article

Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome.

Ponjavic V, Andreasson S, Tranebjaerg L, Lubs HA.

Acta Ophthalmol Scand. 1996 Dec;74(6):632-5.PMID: 9017058 [PubMed - indexed for MEDLINE]Related articles

Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.

Häne B, Schroer RJ, Arena JF, Lubs HA, Schwartz CE, Stevenson RE.

Clin Genet. 1996 Oct;50(4):176-83. Review.PMID: 9001795 [PubMed - indexed for MEDLINE]Related articles

Study of X-linked mental retardation (XLMR): summary of 61 families in the Miami/Greenwood Study.

Lubs HA, Schwartz CE, Stevenson RE, Arena JF.

Am J Med Genet. 1996 Jul 12;64(1):169-75. Review.PMID: 8826469 [PubMed - indexed for MEDLINE]Related articles

XLMR genes: update 1996.

Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri G.

Am J Med Genet. 1996 Jul 12;64(1):147-57. Review.PMID: 8826465 [PubMed - indexed for MEDLINE]Related articles

Seventh International Workshop on the Fragile X and X-linked Mental Retardation.

Tranebjaerg L, Lubs HA, Borghgraef M, Brown WT, Fisch G, Fryns JP, Hagerman R, Jacobs PA, Mandel JL, Mulley J, Oostra B, Schwartz C, Sherman S, Willard H, Willems P.

Am J Med Genet. 1996 Jul 12;64(1):1-14. No abstract available. PMID: 8826442 [PubMed - indexed for MEDLINE]Related articles

Contrast sensitivity in dyslexia.

Gross-Glenn K, Skottun BC, Glenn W, Kushch A, Lingua R, Dunbar M, Jallad B, Lubs HA, Levin B, Rabin M, et al.

Vis Neurosci. 1995 Jan-Feb;12(1):153-63.PMID: 7718496 [PubMed - indexed for MEDLINE]Related articles

Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosome.

Stevenson RE, May M, Arena JF, Millar EA, Scott CI Jr, Schroer RJ, Simensen RJ, Lubs HA, Schwartz CE.

Am J Med Genet. 1994 Sep 1;52(3):339-45.PMID: 7810566 [PubMed - indexed for MEDLINE]Related articles

XLMR genes: update 1994.

Neri G, Chiurazzi P, Arena JF, Lubs HA.

Am J Med Genet. 1994 Jul 15;51(4):542-9. Review.PMID: 7943038 [PubMed - indexed for MEDLINE]Related articles

X-linked mental retardation: the early era from 1943 to 1969.

Stevenson RE, Schwartz CE, Arena JF, Lubs HA.

Am J Med Genet. 1994 Jul 15;51(4):538-41. No abstract available. PMID: 7943037 [PubMed - indexed for MEDLINE]Related articles

Agenesis of the corpus callosum associated with MASA syndrome.

Boyd E, Schwartz CE, Schroer RJ, May MM, Shapiro SD, Arena JF, Lubs HA, Stevenson RE.

Clin Dysmorphol. 1993 Oct;2(4):332-41.PMID: 8305964 [PubMed - indexed for MEDLINE]Related articles

Suggestive linkage of developmental dyslexia to chromosome 1p34-p36.

Rabin M, Wen XL, Hepburn M, Lubs HA, Feldman E, Duara R.

Lancet. 1993 Jul 17;342(8864):178. No abstract available. PMID: 8101276 [PubMed - indexed for MEDLINE]Related articles

Position statement on interphase in situ hybridization prenatal diagnosis. Report of the Southeastern Regional Genetics Group (SERGG).

Lubs HA, Elsas LJ 2nd, Tharapel AT, Buchanan PD, Finley WH, Lozzio CB, Pelias MZ.

Am J Med Genet. 1993 Jun 1;46(4):478. No abstract available. PMID: 8357030 [PubMed - indexed for MEDLINE]Related articles

First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study.

Desnick RJ, Schuette JL, Golbus MS, Jackson L, Lubs HA, Ledbetter DH, Mahoney MJ, Pergament E, Simpson JL, Zachary JM, et al.

Prenat Diagn. 1992 May;12(5):357-72.PMID: 1523203 [PubMed - indexed for MEDLINE]Related articles

Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family.

Bialer MG, Lawrence L, Stevenson RE, Silverberg G, Williams MK, Arena JF, Lubs HA, Schwartz CE.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):491-7.PMID: 1605231 [PubMed - indexed for MEDLINE]Related articles

MRX8: an X-linked mental retardation condition with linkage to Xq21.

Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, Stevenson RE.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):467-74.PMID: 1605227 [PubMed - indexed for MEDLINE]Related articles

XLMR genes: update 1992.

Neri G, Chiurazzi P, Arena F, Lubs HA, Glass IA.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):373-82. Review.PMID: 1605215 [PubMed - indexed for MEDLINE]Related articles

Computerized approach to X-linked mental retardation syndromes.

Arena JF, Lubs HA.

Am J Med Genet. 1991 Feb-Mar;38(2-3):190-9.PMID: 2018057 [PubMed - indexed for MEDLINE]Related articles

XLMR genes: update 1990.

Neri G, Gurrieri F, Gal A, Lubs HA.

Am J Med Genet. 1991 Feb-Mar;38(2-3):186-9.PMID: 2018056 [PubMed - indexed for MEDLINE]Related articles

The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities.

Rhoads GG, Jackson LG, Schlesselman SE, de la Cruz FF, Desnick RJ, Golbus MS, Ledbetter DH, Lubs HA, Mahoney MJ, Pergament E, et al.

N Engl J Med. 1989 Mar 9;320(10):609-17.PMID: 2645520 [PubMed - indexed for MEDLINE]Related articles

Dyslexia subtypes: genetics, behavior, and brain imaging.

Lubs HA, Smith S, Kimberling W, Pennington B, Gross-Glenn K, Duara R.

Res Publ Assoc Res Nerv Ment Dis. 1988;66:139-47.PMID: 3258668 [PubMed - indexed for MEDLINE]Related articles

Spelling errors in adults with a form of familial dyslexia.

Pennington BF, McCabe LL, Smith SD, Lefly DL, Bookman MO, Kimberling WJ, Lubs HA.

Child Dev. 1986 Aug;57(4):1001-13.PMID: 3757596 [PubMed - indexed for MEDLINE]Related articles