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Items: 1 to 50 of 95

1.

Triploidy and trisomies in the offspring of a mother with a balanced translocation.

Slavin TP, Kousseff BG.

Prenat Diagn. 2005 Jul;25(7):623-4. No abstract available.

PMID:
16034830
2.

Omphalocele and gastroschisis: an 18-year review study.

Hwang PJ, Kousseff BG.

Genet Med. 2004 Jul-Aug;6(4):232-6.

PMID:
15266212
3.

Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX.

Sutcliffe MJ, Mueller OT, Kousseff BG, Dumont DP, McFarland JA, Mawani F, Conforto D, Ranells JD.

Am J Med Genet. 2001 Aug 1;102(2):192-9.

PMID:
11477615
4.

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC.

Am J Hum Genet. 2001 Jun;68(6):1386-97. Epub 2001 May 8.

5.

New' manifestations of BOR syndrome.

Weber KM, Kousseff BG.

Clin Genet. 1999 Oct;56(4):306-12.

PMID:
10636449
6.

Penile neurofibromas.

Kousseff BG, Hoover DL.

Am J Med Genet. 1999 Nov 5;87(1):1-5. Review.

PMID:
10528238
7.

Diabetic embryopathy.

Kousseff BG.

Curr Opin Pediatr. 1999 Aug;11(4):348-52. Review.

PMID:
10439209
8.

Gestational diabetes mellitus (class A): a human teratogen?

Kousseff BG.

Am J Med Genet. 1999 Apr 23;83(5):402-8.

PMID:
10232752
9.

Analysis of CpG C-to-T mutations in neurofibromatosis type 1. Mutations in brief no. 129. Online.

Krkljus S, Abernathy CR, Johnson JS, Williams CA, Driscoll DJ, Zori R, Stalker HJ, Rasmussen SA, Collins FS, Kousseff BG, Baumbach L, Wallace MR.

Hum Mutat. 1998;11(5):411.

PMID:
10336779
10.

Lenz syndrome in two sisters: clinicopathologic correlations of the ocular anomalies.

Krishnamurthy MS, Urban RC Jr, Kousseff BG, Margo CE.

J Pediatr Ophthalmol Strabismus. 1998 Mar-Apr;35(2):96-9.

PMID:
9559508
11.

Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)

Amar MJ, Sutphen R, Kousseff BG.

Am J Med Genet. 1997 Jun 27;70(4):349-52.

PMID:
9182772
12.

Paternal exposures and the question of birth defects.

Poynor DH, Lupkiewicz S, Sage SR, Carver VH, Kousseff BG, Lubs HA, Williams CA.

J Fla Med Assoc. 1997 Jun-Jul;84(5):323-6. Review.

PMID:
9260438
13.

Bronchopulmonary-foregut malformations: a continuum of paracrine hamartomas?

Kousseff BG, Gilbert-Barness E, Debich-Spicer D.

Am J Med Genet. 1997 Jan 10;68(1):12-7. Review.

PMID:
8986269
14.

NF1 mutation analysis using a combined heteroduplex/SSCP approach.

Abernathy CR, Rasmussen SA, Stalker HJ, Zori R, Driscoll DJ, Williams CA, Kousseff BG, Wallace MR.

Hum Mutat. 1997;9(6):548-54.

PMID:
9195229
15.

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.

Papenhausen PR, Mueller OT, Sutcliffe M, Diamond TM, Kousseff BG, Johnson VP.

Am J Med Genet. 1996 Dec 2;66(1):90. No abstract available.

PMID:
8957521
16.

RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia.

Hofstra RM, Sijmons RH, Stelwagen T, Stulp RP, Kousseff BG, Lips CJ, Steijlen PM, Van Voorst Vader PC, Buys CH.

J Invest Dermatol. 1996 Aug;107(2):215-8.

17.

Monosomy 6q1: syndrome delineation.

Romie SS, Hartsfield JK Jr, Sutcliffe MJ, Dumont DP, Kousseff BG.

Am J Med Genet. 1996 Mar 15;62(2):105-8.

PMID:
8882389
18.

Pentalogy of Cantrell: detection through fetal board registry and fetal pathology.

Kousseff BG, Jervis GL, Gilbert-Barness E, Debich-Spicer D, Gunasekaran S.

Birth Defects Orig Artic Ser. 1996;30(1):189-202. No abstract available.

PMID:
9125328
19.

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult.

Papenhausen PR, Mueller OT, Johnson VP, Sutcliffe M, Diamond TM, Kousseff BG.

Am J Med Genet. 1995 Nov 20;59(3):271-5. Review.

PMID:
8599348
20.

Fragile X syndrome: discordant levels of CGG repeat mosaicism in two brothers.

Mueller OT, Hartsfield JK Jr, Amar MJ, Gallardo LA, Kousseff BG.

Am J Med Genet. 1995 Aug 14;60(4):302-6.

PMID:
7485265
21.

Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum.

Sutphen R, Galan-Gomez E, Cortada X, Newkirk PN, Kousseff BG.

Clin Genet. 1995 Aug;48(2):66-71.

PMID:
7586653
22.

XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome)

Sutphen R, Amar MJ, Kousseff BG, Toomey KE.

Am J Med Genet. 1995 Jul 3;57(3):489-92.

PMID:
7677157
23.

Peripheral neuropathy in Ehlers-Danlos syndrome.

Galan E, Kousseff BG.

Pediatr Neurol. 1995 Apr;12(3):242-5. Review.

PMID:
7619192
24.

Clitoromegaly in neurofibromatosis.

Sutphen R, Galán-Goméz E, Kousseff BG.

Am J Med Genet. 1995 Jan 30;55(3):325-30. Review.

PMID:
7726231
25.

Multiple endocrine neoplasia 2 (MEN 2)/MEN 2A (Sipple syndrome).

Kousseff BG.

Dermatol Clin. 1995 Jan;13(1):91-7. Review.

PMID:
7712656
26.

Lowry-Maclean syndrome does exist.

Kousseff BG, Ranells JD.

Am J Med Genet. 1994 Nov 15;53(3):300-1. No abstract available.

PMID:
7856667
27.

Brachmann-de Lange syndrome. 1994 update.

Kousseff BG, Newkirk P, Root AW.

Arch Pediatr Adolesc Med. 1994 Jul;148(7):749-55. Review.

PMID:
8019632
28.

Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene.

Abernathy CR, Colman SD, Kousseff BG, Wallace MR.

Hum Mutat. 1994;3(4):347-52.

PMID:
8081387
29.

Physical growth in Brachmann-de Lange syndrome.

Kousseff BG, Thomson-Meares J, Newkirk P, Root AW.

Am J Med Genet. 1993 Nov 15;47(7):1050-2.

PMID:
8291522
30.

Ankyloblepharon filiforme adnatum in trisomy 18.

Bacal DA, Nelson LB, Zackai EH, Lavrich JB, Kousseff BG, McDonald-McGinn D.

J Pediatr Ophthalmol Strabismus. 1993 Sep-Oct;30(5):337-9.

PMID:
8254454
31.

Overgrowth management in Klippel-Trenaunay-Weber and Proteus syndromes.

Guidera KJ, Brinker MR, Kousseff BG, Helal AA, Pugh LI, Ganey TM, Ogden JA.

J Pediatr Orthop. 1993 Jul-Aug;13(4):459-66.

PMID:
8396594
32.

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.

Hartsfield JK Jr, Hall BD, Grix AW, Kousseff BG, Salazar JF, Haufe SM.

Am J Med Genet. 1993 Mar 1;45(5):552-7.

PMID:
7681250
33.

Complex chromosome rearrangement with ankyloblepharon filiforme adnatum.

Kousseff BG, Papenhausen P, Essig YP, Torres MP.

J Med Genet. 1993 Feb;30(2):167-70.

34.

Cleft palate and complex chromosome rearrangements.

Kousseff BG, Papenhausen P, Neu RL, Essig YP, Saraceno CA.

Clin Genet. 1992 Sep;42(3):135-42. Review.

PMID:
1327590
35.

Hypothesis: Jadassohn nevus phakomatosis: a paracrinopathy with variable phenotype.

Kousseff BG.

Am J Med Genet. 1992 Jul 1;43(4):651-61.

PMID:
1621754
36.

Sipple syndrome with lichen amyloidosis as a paracrinopathy.

Kousseff BG.

Am J Med Genet. 1992 Mar 1;42(5):751-3. No abstract available.

PMID:
1352941
37.

Ankyloblepharon filiforme adnatum.

Weiss AH, Riscile G, Kousseff BG.

Am J Med Genet. 1992 Feb 1;42(3):369-73.

PMID:
1536181
38.

The genetics of malignant melanomas.

Kousseff BG.

Ann Plast Surg. 1992 Jan;28(1):11-3. Review.

PMID:
1642397
39.

Sipple syndrome with lichen amyloidosis as a paracrinopathy: pleiotropy, heterogeneity, or a contiguous gene?

Kousseff BG, Espinoza C, Zamore GA.

J Am Acad Dermatol. 1991 Oct;25(4):651-7.

PMID:
1686438
40.

Trichothiodystrophy and ichthyosis as diagnostic signs.

Kousseff BG.

Am J Med Genet. 1991 Jul 1;40(1):124-5. No abstract available.

PMID:
1887842
41.

Collodion baby, sign of Tay syndrome.

Kousseff BG.

Pediatrics. 1991 Apr;87(4):571-4. No abstract available.

PMID:
2011438
42.

Duplication 3q(q21----qter) without limb anomalies.

Ismail SR, Kousseff BG, Kotb SM, Kholeif SF.

Am J Med Genet. 1991 Mar 15;38(4):518-22. Review.

PMID:
2063889
43.

Unique brain anomalies in an infant of a diabetic mother.

Kousseff BG, Villaveces C, Martinez CR.

Acta Paediatr Scand. 1991 Jan;80(1):110-5.

PMID:
2028782
44.

Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.

Hartsfield JK Jr, Kousseff BG.

Am J Med Genet. 1990 Dec;37(4):465-70. Review.

PMID:
2260589
45.

Endocrinopathies in Cornelia de Lange syndrome.

Schwartz ID, Schwartz KJ, Kousseff BG, Bercu BB, Root AW.

J Pediatr. 1990 Dec;117(6):920-3. No abstract available.

PMID:
2246693
46.

The phakomatoses as paracrine growth disorders (paracinopathies).

Kousseff BG.

Clin Genet. 1990 Feb;37(2):97-105.

PMID:
2107047
47.

Simple microphthalmos.

Weiss AH, Kousseff BG, Ross EA, Longbottom J.

Arch Ophthalmol. 1989 Nov;107(11):1625-30.

PMID:
2818284
48.

Complex microphthalmos.

Weiss AH, Kousseff BG, Ross EA, Longbottom J.

Arch Ophthalmol. 1989 Nov;107(11):1619-24.

PMID:
2818283
49.

"Vascular neurofibromatosis" and infantile gangrene.

Kousseff BG, Gilbert-Barness EF.

Am J Med Genet. 1989 Oct;34(2):221-6.

PMID:
2510517
50.

Neurofibromatosis: a prototype of the phakomatoses, paracrine disorders in man?

Kousseff BG.

J Fla Med Assoc. 1989 Jun;76(6):535-8. No abstract available.

PMID:
2517793

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