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Results: 16

Select item 229223141.

Another case of genitopatellar syndrome: a case report with additional rare coexistences.

Sankararaman S, Kurepa D, Velayuthan S, Kakkilaya V, Gates T, Ursin S, Chen H.

Clin Dysmorphol. 2012 Oct;21(4):226-8. doi: 10.1097/MCD.0b013e3283590a77. No abstract available.

PMID:: 22922314; [PubMed - indexed for MEDLINE]

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Select item 227151532.

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH.

Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Review.

PMID:: 22715153; [PubMed - indexed for MEDLINE]

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Select item 222650173.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, Kant SG, Hoefsloot LH, Reardon W, Brunner HG, Bongers EM, Trembath RC.

Am J Hum Genet. 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19.

PMID:: 22265017; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 222650144.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH.

Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19.

PMID:: 22265014; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 214121515.

Genitopatellar syndrome: a further case.

Brugha R, Kinali M, Aminu K, Bridges N, Holder SE.

Clin Dysmorphol. 2011 Jul;20(3):163-5. doi: 10.1097/MCD.0b013e328345a1dd. No abstract available.

PMID:: 21412151; [PubMed - indexed for MEDLINE]

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Select item 201827576.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Bergmann C, Spranger S, Javaher P, Ptok M.

Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. Review.

PMID:: 20182757; [PubMed - indexed for MEDLINE]

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Select item 195001177.

Subtelomeric 1q deletion syndrome causing patella hypoplasia and limb deformities, features overlapping with genitopatellar syndrome.

Lam AC, Lai KK, Chau AT, Lo IF, Lam ST.

Clin Genet. 2009 Jul;76(1):102-7. doi: 10.1111/j.1399-0004.2008.01121.x. Epub 2009 Jun 4. No abstract available.

PMID:: 19500117; [PubMed - indexed for MEDLINE]

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Select item 192083768.

Genitopatellar syndrome in an adolescent female with severe osteoporosis and endocrine abnormalities.

Penttinen M, Koillinen H, Niinikoski H, Mäkitie O, Hietala M.

Am J Med Genet A. 2009 Mar;149A(3):451-5. doi: 10.1002/ajmg.a.32644.

PMID:: 19208376; [PubMed - indexed for MEDLINE]

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Select item 174318989.

Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.

Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B.

Am J Med Genet A. 2007 May 15;143A(10):1071-81.

PMID:: 17431898; [PubMed - indexed for MEDLINE]

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Select item 1676129310.

Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.

Abdul-Rahman OA, La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L.

Am J Med Genet A. 2006 Jul 15;140(14):1567-72.

PMID:: 16761293; [PubMed - indexed for MEDLINE]

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Select item 1614301511.

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.

Clin Genet. 2005 Oct;68(4):302-19. Review.

PMID:: 16143015; [PubMed - indexed for MEDLINE]

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Select item 1294997812.

Genitopatellar syndrome: expanding the phenotype.

Lifchez CA, Rhead WJ, Leuthner SR, Lubinsky MS.

Am J Med Genet A. 2003 Sep 15;122A(1):80-3.

PMID:: 12949978; [PubMed - indexed for MEDLINE]

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Select item 1247120913.

Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature.

Armstrong L, Clarke JT.

J Med Genet. 2002 Dec;39(12):933-4. No abstract available.

PMID:: 12471209; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1221033014.

Genitopatellar syndrome: delineating the anomalies of female genitalia.

Lammer EJ, Abrams L.

Am J Med Genet. 2002 Aug 15;111(3):316-8.

PMID:: 12210330; [PubMed - indexed for MEDLINE]

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Select item 1221032915.

Genitopatellar syndrome: a recognizable phenotype.

Reardon W.

Am J Med Genet. 2002 Aug 15;111(3):313-5.

PMID:: 12210329; [PubMed - indexed for MEDLINE]

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Select item 1088275516.

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M.

J Med Genet. 2000 Jul;37(7):520-4.

PMID:: 10882755; [PubMed - indexed for MEDLINE]

Free PMC Article

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4 free full-text articles in PubMed Central

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome. [Am J Hum Genet. 2012]
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Simpson MA, Deshpande C, Dafou D, Vissers LE, Woollard WJ, Holder SE, Gillessen-Kaesbach G, Derks R, White SM, Cohen-Snuijf R, et al. Am J Hum Genet. 2012 Feb 10; 90(2):290-4. Epub 2012 Jan 19.
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. [Am J Hum Genet. 2012]
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, et al. Am J Hum Genet. 2012 Feb 10; 90(2):282-9. Epub 2012 Jan 19.
Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature. [J Med Genet. 2002]
Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature.
Armstrong L, Clarke JT. J Med Genet. 2002 Dec; 39(12):933-4.