Gorlin RJ - 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: gorlin rj. 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. Among authors: gorlin rj. Am J Med Genet. 1998 Jan 6;75(1):18-21. Am J Med Genet. 1998. PMID: 9450851

3

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. Reish O, et al. Among authors: gorlin rj. Am J Med Genet. 1997 Feb 11;68(4):386-90. doi: 10.1002/(sici)1096-8628(19970211)68:4<386::aid-ajmg2>3.0.co;2-k. Am J Med Genet. 1997. PMID: 9021007

4

Single central incisor in familial holoprosencephaly.

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

5

Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).

Langer LO Jr, Gorlin RJ, Donnai D, Hamel BC, Clericuzio C. Langer LO Jr, et al. Among authors: gorlin rj. Am J Med Genet. 1994 May 15;51(1):1-8. doi: 10.1002/ajmg.1320510102. Am J Med Genet. 1994. PMID: 8030662 Review.

6

Adams-Oliver syndrome revisited.

Whitley CB, Gorlin RJ. Whitley CB, et al. Among authors: gorlin rj. Am J Med Genet. 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. Am J Med Genet. 1991. PMID: 1951437 Review.

7

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

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

8

Oculo-facio-cardio-dental (OFCD) syndrome.

Gorlin RJ, Marashi AH, Obwegeser HL. Gorlin RJ, et al. Am J Med Genet. 1996 May 3;63(1):290-2. doi: 10.1002/(SICI)1096-8628(19960503)63:1<290::AID-AJMG47>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8723122

9

Blepharo-cheilo-dontic (BCD) syndrome.

Gorlin RJ, Zellweger H, Curtis MW, Wiedemann HR, Warburg M, Majewski F, Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E. Gorlin RJ, et al. Am J Med Genet. 1996 Oct 16;65(2):109-12. doi: 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8911600

10

Marked female predilection in some syndromes associated with facial hemangiomas.

Gorlin RJ, Kantaputra P, Aughton DJ, Mulliken JB. Gorlin RJ, et al. Am J Med Genet. 1994 Aug 15;52(2):130-5. doi: 10.1002/ajmg.1320520203. Am J Med Genet. 1994. PMID: 7801997 Review.

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