Pierpont ME - Search Results

1

Microcephaly with agenesis of corticospinal tracts and arthrogryposis, hypospadias, single umbilical artery, hypertelorism, and renal and adrenal hypoplasia--previously undescribed syndrome.

Coad JE, Angel C, Pierpont ME, Gorlin RJ, Anderson ML. Coad JE, et al. Among authors: pierpont me. Am J Med Genet. 1997 Sep 5;71(4):458-62. doi: 10.1002/(sici)1096-8628(19970905)71:4<458::aid-ajmg16>3.0.co;2-f. Am J Med Genet. 1997. PMID: 9286455

2

Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome.

Pierpont ME, Stewart FJ, Gorlin RJ. Pierpont ME, et al. Am J Med Genet. 1998 Jan 6;75(1):18-21. Am J Med Genet. 1998. PMID: 9450851

3

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

Satran D, Pierpont ME, Dobyns WB. Satran D, et al. Among authors: pierpont me. Am J Med Genet. 1999 Oct 29;86(5):459-69. Am J Med Genet. 1999. PMID: 10508989 Review.

4

Unbalanced 4;6 translocation and progressive renal disease.

Pierpont ME, Hentges AS, Gears LJ, Hirsch B, Sinaiko A. Pierpont ME, et al. Am J Med Genet. 2000 Nov 27;95(3):275-80. Am J Med Genet. 2000. PMID: 11102935

5

Single central incisor in familial holoprosencephaly.

Berry SA, Pierpont ME, Gorlin RJ. Berry SA, et al. Among authors: pierpont me. J Pediatr. 1984 Jun;104(6):877-80. doi: 10.1016/s0022-3476(84)80485-0. J Pediatr. 1984. PMID: 6726520

6

Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia.

Pierpont ME, Moller JH, Gorlin RJ, Edwards JE. Pierpont ME, et al. Pediatr Cardiol. 1982;2(4):297-302. doi: 10.1007/BF02426976. Pediatr Cardiol. 1982. PMID: 6750563

7

Variation in severity of cardiac disease in Holt-Oram syndrome.

Sletten LJ, Pierpont ME. Sletten LJ, et al. Among authors: pierpont me. Am J Med Genet. 1996 Oct 16;65(2):128-32. doi: 10.1002/(SICI)1096-8628(19961016)65:2<128::AID-AJMG9>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8911604 Review.

8

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Schimmenti LA, et al. Among authors: pierpont me. Am J Med Genet. 1995 Nov 6;59(2):204-8. doi: 10.1002/ajmg.1320590217. Am J Med Genet. 1995. PMID: 8588587

9

Duplication 6q22-->qter: definition of the phenotype.

Conrad BA, Higgins RR, Pierpont ME. Conrad BA, et al. Among authors: pierpont me. Am J Med Genet. 1998 Jun 30;78(2):123-6. doi: 10.1002/(sici)1096-8628(19980630)78:2<123::aid-ajmg5>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9674901

10

Genetic aspects of atrioventricular septal defects.

Pierpont ME, Markwald RR, Lin AE. Pierpont ME, et al. Am J Med Genet. 2000 Winter;97(4):289-96. Am J Med Genet. 2000. PMID: 11376440

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