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Items: 1 to 50 of 142

1.

GNPTAB-Related Disorders.

Leroy JG, Cathey SS, Friez MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Aug 26 [updated 2019 Aug 29].

2.

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Nampoothiri S, Elcioglu NH, Koca SS, Yesodharan D, Kk C, Krishnan V 5th, Bhat M, Mohandas Nair K, Radhakrishnan N, Kappanayil M, Sheth JJ, Alves S, Coutinho F, Friez MJ, Pauli RM, Unger S, Superti-Furga A, Leroy JG, Cathey SS.

Clin Dysmorphol. 2019 Jan;28(1):7-16. doi: 10.1097/MCD.0000000000000249.

PMID:
30507725
3.

Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations.

Warren HE, Louie RJ, Friez MJ, Frías JL, Leroy JG, Spranger JW, Skinner SA, Champaigne NL.

Clin Case Rep. 2018 Oct 15;6(11):2252-2255. doi: 10.1002/ccr3.1818. eCollection 2018 Nov.

4.

Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome.

van der Werf IM, Buiting K, Czeschik C, Reyniers E, Vandeweyer G, Vanhaesebrouck P, Lüdecke HJ, Wieczorek D, Horsthemke B, Mortier G, Leroy JG, Kooy RF.

Eur J Hum Genet. 2016 Dec;24(12):1724-1729. doi: 10.1038/ejhg.2016.82. Epub 2016 Jul 13.

5.

New observation of sialuria prompts detection of liver tumor in previously reported patient.

Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE.

Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16.

PMID:
27142465
6.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

7.

XYLT1 mutations in Desbuquois dysplasia type 2.

Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2014 Mar 6;94(3):405-14. doi: 10.1016/j.ajhg.2014.01.020. Epub 2014 Feb 27.

8.

Long-term observation of a patient with dominant omodysplasia.

Gordon BL, Champaigne NL, Rogers RC, Frias JL, Leroy JG.

Am J Med Genet A. 2014 May;164A(5):1234-8. doi: 10.1002/ajmg.a.36408. Epub 2014 Jan 23.

PMID:
24458798
9.

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS.

Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18.

10.

Living related liver transplantation in an adult patient with hepatocellular adenoma and carcinoma 13 years after bone marrow transplantation for Fanconi anemia: A case report.

Colle I, Laureys G, Raevens S, Libbrecht L, Leroy JG, Reyntjens K, Geerts A, Rogiers X, Troisi RI, Hoehn H, Schindler D, Hanenberg H, De Wilde V, Van Vlierberghe H.

Hepatol Res. 2013 Sep;43(9):991-8. doi: 10.1111/hepr.12043. Epub 2013 May 15.

11.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.

Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R.

Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5.

PMID:
23462291
12.

Sialuria.

Leroy JG.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2004 Jan 14 [updated 2012 Oct 18].

13.

Mucolipidosis III Alpha/Beta.

Leroy JG, Cathey SS, Friez MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Aug 26 [updated 2012 May 10].

14.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S.

Am J Hum Genet. 2012 Feb 10;90(2):356-62. doi: 10.1016/j.ajhg.2011.12.018. Epub 2012 Jan 26.

15.

Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.

Maricich SM, Aqeeb KA, Moayedi Y, Mathes EL, Patel MS, Chitayat D, Lyon G, Leroy JG, Zoghbi HY.

J Child Neurol. 2011 Mar;26(3):288-94. doi: 10.1177/0883073810380047. Review.

PMID:
21383226
16.

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

Isidor B, Pichon O, Redon R, Day-Salvatore D, Hamel A, Siwicka KA, Bitner-Glindzicz M, Heymann D, Kjellén L, Kraus C, Leroy JG, Mortier GR, Rauch A, Verloes A, David A, Le Caignec C.

Am J Hum Genet. 2010 Jul 9;87(1):95-100. doi: 10.1016/j.ajhg.2010.05.012. Epub 2010 Jun 17.

17.

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR.

Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Erratum in: Eur J Hum Genet. 2010 Aug;18(8):881.

18.

Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course.

Isidor B, Hamel A, Plasschaert F, Claus L, Mercier JM, Mortier GR, Leroy JG, Verloes A, David A.

Am J Med Genet A. 2009 Oct;149A(10):2220-5. doi: 10.1002/ajmg.a.32926.

PMID:
19725128
19.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

Cathey SS, Leroy JG, Wood T, Eaves K, Simensen RJ, Kudo M, Stevenson RE, Friez MJ.

J Med Genet. 2010 Jan;47(1):38-48. doi: 10.1136/jmg.2009.067736. Epub 2009 Jul 16.

20.

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.

Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A.

J Med Genet. 2009 Apr;46(4):233-41. doi: 10.1136/jmg.2008.062729. Epub 2008 Dec 16.

PMID:
19088120
21.

Molecular order in mucolipidosis II and III nomenclature.

Cathey SS, Kudo M, Tiede S, Raas-Rothschild A, Braulke T, Beck M, Taylor HA, Canfield WM, Leroy JG, Neufeld EF, McKusick VA.

Am J Med Genet A. 2008 Feb 15;146A(4):512-3. doi: 10.1002/ajmg.a.32193. No abstract available.

PMID:
18203164
22.

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

Leroy JG, Nuytinck L, Lambert J, Naeyaert JM, Mortier GR.

Am J Med Genet A. 2007 Dec 15;143A(24):3144-9.

PMID:
18000903
23.

Czech dysplasia metatarsal type: another type II collagen disorder.

Hoornaert KP, Marik I, Kozlowski K, Cole T, Le Merrer M, Leroy JG, Coucke PJ, Sillence D, Mortier GR.

Eur J Hum Genet. 2007 Dec;15(12):1269-75. Epub 2007 Aug 29.

24.

Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype.

Leroy JG, Lyon G, Fallet C, Amiel J, De Praeter C, Van Den Broecke C, Vanhaesebrouck P.

Acta Neuropathol. 2007 Oct;114(4):387-99. Epub 2007 Jul 13.

PMID:
17628812
25.

Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.

Leroy JG.

Pediatr Res. 2006 Dec;60(6):643-56. Epub 2006 Oct 25. Review.

PMID:
17065563
26.

RMRP mutations in cartilage-hair hypoplasia.

Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG.

Am J Med Genet A. 2006 Oct 1;140(19):2121-30.

PMID:
16838329
27.

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.

Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA.

Biochim Biophys Acta. 2006 Jun;1762(6):598-607.

28.

Mutations in different components of FGF signaling in LADD syndrome.

Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nürnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yüksel-Apak M, Nürnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B.

Nat Genet. 2006 Apr;38(4):414-7. Epub 2006 Feb 26. Erratum in: Nat Genet. 2006 Apr;38(4):495. Kubisch, Chriütian [corrected to Kubisch, Christian].

PMID:
16501574
29.

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.

de Paepe B, Smet J, Leroy JG, Seneca S, George E, Matthys D, van Maldergem L, Scalais E, Lissens W, de Meirleir L, Meulemans A, van Coster R.

Pediatr Res. 2006 Jan;59(1):2-6. Epub 2005 Dec 2.

PMID:
16327006
30.

Aminoacylase I deficiency: a novel inborn error of metabolism.

Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W.

Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. Epub 2005 Nov 2.

PMID:
16274666
31.

Nonsyndromic microcephaly: an overview.

Leroy JG, Frías JL.

Adv Pediatr. 2005;52:261-93. Review. No abstract available.

PMID:
16124344
32.

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.

Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J.

Am J Med Genet A. 2005 Jun 15;135(3):328-32.

PMID:
15887289
33.

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.

Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR.

J Med Genet. 2005 Apr;42(4):328-35. No abstract available.

34.

Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome.

Vermeulen SJ, Speleman F, Vanransbeeck L, Verspeet J, Menten B, Verschraegen-Spae MR, Wilde PD, Messiaen L, Michaelis RC, Leroy JG.

Eur J Hum Genet. 2005 Jan;13(1):52-8.

35.

A new type of autosomal recessive spondyloepiphyseal dysplasia tarda.

Leroy JG, Leroy BP, Emmery LV, Messiaen L, Spranger JW.

Am J Med Genet A. 2004 Feb 15;125A(1):49-56.

PMID:
14755466
36.

N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism.

Engelke UF, Liebrand-van Sambeek ML, de Jong JG, Leroy JG, Morava E, Smeitink JA, Wevers RA.

Clin Chem. 2004 Jan;50(1):58-66. Epub 2003 Nov 18.

37.

Unfortunate oversight.

Leroy JG.

Am J Med Genet A. 2003 Sep 15;122A(1):92-3. No abstract available.

PMID:
12949982
38.

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.

Van Coster R, Seneca S, Smet J, Van Hecke R, Gerlo E, Devreese B, Van Beeumen J, Leroy JG, De Meirleir L, Lissens W.

Am J Med Genet A. 2003 Jul 1;120A(1):13-8.

PMID:
12794685
39.
40.

A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene.

Wimmer K, Mühlbauer M, Eckart M, Callens T, Rehder H, Birkner T, Leroy JG, Fonatsch C, Messiaen L.

Eur J Hum Genet. 2002 May;10(5):334-8.

41.

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA.

Am J Hum Genet. 2001 Jun;68(6):1419-27. Epub 2001 Apr 18.

42.

Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35-->qter: molecular cytogenetic analysis and clinical phenotype in two generations.

Speleman F, Callens B, Logghe K, Van Roy N, Horsley SW, Jauch A, Verschraegen-Spae MR, Leroy JG.

Am J Med Genet. 2000 Aug 28;93(5):349-54. Review.

PMID:
10951456
43.

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.

Mortier G, Nuytinck L, Craen M, Renard JP, Leroy JG, de Paepe A.

J Med Genet. 2000 Mar;37(3):220-4. No abstract available.

44.

Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.

Loeys BL, Van Coster RN, Defreyne LR, Leroy JG.

Eur J Pediatr. 1999 Aug;158(8):650-2.

PMID:
10445344
45.

The Meier-Gorlin syndrome, or ear-patella-short stature syndrome, in sibs.

Loeys BL, Lemmerling MM, Van Mol CE, Leroy JG.

Am J Med Genet. 1999 May 7;84(1):61-7.

PMID:
10213048
46.

Prenatal diagnosis of pyruvate carboxylase deficiency by direct measurement of catalytic activity on chorionic villi samples.

Van Coster RN, Janssens S, Misson JP, Verloes A, Leroy JG.

Prenat Diagn. 1998 Oct;18(10):1041-4.

PMID:
9826895
47.

Bruck syndrome: neonatal presentation and natural course in three patients.

Leroy JG, Nuytinck L, De Paepe A, De Rammelaere M, Gillerot Y, Verloes A, Loeys B, De Groote W.

Pediatr Radiol. 1998 Oct;28(10):781-9.

PMID:
9799301
48.

MRI findings in a neonate with cerebellar agenesis.

Van Coster RN, De Praeter CM, Vanhaesebrouck PJ, Leroy JG.

Pediatr Neurol. 1998 Aug;19(2):139-42.

PMID:
9744635
49.

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.

Am J Hum Genet. 1998 Feb;62(2):311-9.

50.

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

Meyer J, Südbeck P, Held M, Wagner T, Schmitz ML, Bricarelli FD, Eggermont E, Friedrich U, Haas OA, Kobelt A, Leroy JG, Van Maldergem L, Michel E, Mitulla B, Pfeiffer RA, Schinzel A, Schmidt H, Scherer G.

Hum Mol Genet. 1997 Jan;6(1):91-8.

PMID:
9002675

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