Clinical Dysmorphology Pattern Comparison and Study of Genetic Defects

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- Clinical Dysmorphology Pattern Comparison and Study of Genetic Defects

→ Prelog M, Bergmann C, Ausserlechner MJ, Fischer H, Margreiter R, Gassner I,
Brunner A, Jungraithmayr TC, Zerres K, Sergi C, Zimmerhackl LB.
Successful transplantation in a child with rapid progression of autosomal
recessive polycystic kidney disease associated with a novel mutation.
Pediatr Transplant. 2006 May;10(3):362-6.

→ Boettger MB, Kirchhof K, Sergi C, Sakmann C, Meyer P.
Colobomas of the iris and choroid and high signal intensity cerebral foci on
T2-weighted magnetic resonance images in Klinefelter's syndrome.
J Pediatr Ophthalmol Strabismus. 2004 Jul-Aug;41(4):247-8.

→ Johnson CA, Gissen P, Sergi C.
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.
J Med Genet. 2003 May;40(5):311-9.

→ Schiffer C, Tariverdian G, Schiesser M, Thomas MC, Sergi C.

Agnathia-otocephaly complex: report of three cases with involvement of two

different Carnegie stages.

Am J Med Genet. 2002 Oct 1;112(2):203-8.

→ Sergi C, Voigtlander T, Zoubaa S, Hentze S, Meyberg-Solomeyer G, Troeger J,

Tariverdian G, Otto HF, Schiesser M.

Ellis-van Creveld syndrome: a generalized dysplasia of enchondral ossification.

Pediatr Radiol. 2001 Apr;31(4):289-93.

→ Sergi C, Poeschl J, Graf M, Linderkamp O.

Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis,

and differential diagnosis of the lethal congenital contractural syndromes.

Am J Perinatol. 2001;18(1):39-47.

→ Sergi C, Kahl P, Otto HF.

Immunohistochemical localization of transforming growth factor-alpha and
epithelial growth factor receptor in human fetal developing skin, psoriasis and

restrictive dermopathy.

Pathol Oncol Res. 2000;6(4):250-5.

→ Sergi C, Schiesser M, Adam S, Otto HF.

Analysis of the spectrum of malformations in human fetuses of the second and
third trimester of pregnancy with human triploidy.

Pathologica. 2000 Aug;92(4):257-63.

→ Sergi C, Adam S, Kahl P, Otto HF.

Study of the malformation of ductal plate of the liver in Meckel syndrome and

review of other syndromes presenting with this anomaly.

Pediatr Dev Pathol. 2000 Nov-Dec;3(6):568-83.

→ Sergi C, Zoubaa S, Schiesser M.

Norman-Roberts syndrome: prenatal diagnosis and autopsy findings.

Prenat Diagn. 2000 Jun;20(6):505-9.

→ Sergi C, Kahl P, Otto HF.

Contribution of apoptosis and apoptosis-related proteins to the malformation of

the primitive intrahepatic biliary system in Meckel syndrome.

Am J Pathol. 2000 May;156(5):1589-98.

→ Sergi C, Serpi M, Muller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.

CATCH 22 syndrome: report of 7 infants with follow-up data and review of the

recent advancements in the genetic knowledge of the locus 22q11.

Pathologica. 1999 Jun;91(3):166-72.

→ Hentze S, Sergi C, Troeger J, Revell PA, Otto HF, Tariverdian G.

Short-rib-polydactyly syndrome type Verma-Naumoff-Le Marec in a fetus with

histological hallmarks of type Saldino-Noonan but lacking internal organ abnormalities.

Am J Med Genet. 1998 Nov 16;80(3):281-5.

→ Sergi C, Graf M, Jung C, Sohn C, Adam S, Krempien B, Otto HF.

Resting cartilage and the growth plate in diastrophic dysplasia: case report

and clinicopathologic characteristics as compared to pseudodystrophic dysplasia

and type II atelosteogenesis

Pathologe. 1998 Sep;19(5):379-83.

→ Sergi C, Schulze BR, Hager HD, Beedgen B, Zilow E, Linderkamp O, Otto HF,

Tariverdian G.

Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations

associated with diaphragmatic defects.

Pathologica. 1998 Jun;90(3):285-93.

→ Jung C, Sohn C, Sergi C.

Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks
of gestation in a mother with massive obesity.

Prenat Diagn. 1998 Apr;18(4):378-83.

→ Sergi C, Stein H, Heep JG, Otto HF.

A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis:

case report and differential diagnosis.

Pathol Res Pract. 1997;193(8):579-85; discussion 587-8.

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