436 related articles for article (PubMed ID: 10882755)
1. 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. PubMed ID: 10882755
[TBL] [Abstract][Full Text] [Related]
2. Genitopatellar syndrome: a case report of a rare entity with 11 years of follow-up.
To M; Negandhi R; Cheung K; Cheung WY; Chow W
J Pediatr Orthop B; 2013 Jul; 22(4):333-8. PubMed ID: 22568963
[TBL] [Abstract][Full Text] [Related]
3. Genitopatellar syndrome: a recognizable phenotype.
Reardon W
Am J Med Genet; 2002 Aug; 111(3):313-5. PubMed ID: 12210329
[TBL] [Abstract][Full Text] [Related]
4. Genitopatellar syndrome: delineating the anomalies of female genitalia.
Lammer EJ; Abrams L
Am J Med Genet; 2002 Aug; 111(3):316-8. PubMed ID: 12210330
[TBL] [Abstract][Full Text] [Related]
5. Meier-Gorlin syndrome: report of eight additional cases and review.
Bongers EM; Opitz JM; Fryer A; Sarda P; Hennekam RC; Hall BD; Superneau DW; Harbison M; Poss A; van Bokhoven H; Hamel BC; Knoers NV
Am J Med Genet; 2001 Aug; 102(2):115-24. PubMed ID: 11477602
[TBL] [Abstract][Full Text] [Related]
6. Genitopatellar syndrome: expanding the phenotype.
Lifchez CA; Rhead WJ; Leuthner SR; Lubinsky MS
Am J Med Genet A; 2003 Sep; 122A(1):80-3. PubMed ID: 12949978
[TBL] [Abstract][Full Text] [Related]
7. Thrombocytopenia absent corpus callosum syndrome: third case of a distinct clinical entity.
Khabbaze Y; Karayalcin G; Paley C; Shende A; Valderrama E; Lipton JM
J Pediatr Hematol Oncol; 2001 Oct; 23(7):469-71. PubMed ID: 11878585
[TBL] [Abstract][Full Text] [Related]
8. Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis.
Dursun A; Ermis B; Numanoglu V; Bahadir B; Seckiner I
Saudi Med J; 2006 Nov; 27(11):1745-7. PubMed ID: 17106555
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 12471209
[No Abstract] [Full Text] [Related]
10. Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): new X-linked syndrome?
Reish O; Gorlin RJ; Hordinsky M; Rest EB; Burke B; Berry SA
Am J Med Genet; 1997 Feb; 68(4):386-90. PubMed ID: 9021007
[TBL] [Abstract][Full Text] [Related]
11. X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family.
Kang WM; Huang CC; Lin SJ
Am J Med Genet; 1992 Nov; 44(5):619-23. PubMed ID: 1481821
[TBL] [Abstract][Full Text] [Related]
12. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM; Lu JT; Dawson BC; Fokkema IF; Robertson SP; Gibbs RA; Lee BH
Hum Mutat; 2012 Nov; 33(11):1520-5. PubMed ID: 22715153
[TBL] [Abstract][Full Text] [Related]
13. 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; 140(14):1567-72. PubMed ID: 16761293
[TBL] [Abstract][Full Text] [Related]
14. Genitopatellar Syndrome Secondary to
Kim BR; Han JH; Shin JE; Park MS; Park KI; Namgung R; Lee HJ; Lee JS; Eun HS
Yonsei Med J; 2019 Apr; 60(4):395-398. PubMed ID: 30900427
[TBL] [Abstract][Full Text] [Related]
15. Diagnosis oligohydramnios-related pulmonary hypoplasia (Potter syndrome): value of portable voiding cystourethrography in newborns with respiratory distress.
Wolf EL; Berdon WE; Baker DH; Wigger HJ; Blanc WA
Radiology; 1977 Dec; 125(3):769-73. PubMed ID: 928707
[TBL] [Abstract][Full Text] [Related]
16. Prenatal ultrasound diagnosis of Toriello-Carey syndrome.
Paladini D; Russo MG; Tartaglione A; Loffredo A; Martinelli P
Prenat Diagn; 2002 Dec; 22(13):1185-7. PubMed ID: 12478630
[TBL] [Abstract][Full Text] [Related]
17. Further delineation of the Toriello-Carey syndrome: a report of two siblings.
Barisic I; Peter B; Mikecin L
Am J Med Genet A; 2003 Jan; 116A(2):188-91. PubMed ID: 12494442
[TBL] [Abstract][Full Text] [Related]
18. [Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes].
Graber D; Antignac C; Deschenes G; Coulin A; Hermouet Y; Pedespan JM; Fontan D; Ponsot G
Arch Pediatr; 2001 Feb; 8(2):186-90. PubMed ID: 11232461
[TBL] [Abstract][Full Text] [Related]
19. Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndrome.
Schrander-Stumpel C; de Die-Smulders C; Fryns JP; da Costa J; Bouckaert P
Am J Med Genet; 1990 Sep; 37(1):133-5. PubMed ID: 2240030
[TBL] [Abstract][Full Text] [Related]
20. Craniomicromelic syndrome: a newly recognized lethal condition with craniosynostosis, distinct facial anomalies, short limbs, and intrauterine growth retardation.
Barr M; Heidelberger KP; Comstock CH
Am J Med Genet; 1995 Sep; 58(4):348-52. PubMed ID: 8533844
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]