Modaff P - Search Results

1

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.

Panzer KM, Lachman R, Modaff P, Pauli RM. Panzer KM, et al. Among authors: modaff p. Am J Med Genet A. 2008 Nov 15;146A(22):2920-4. doi: 10.1002/ajmg.a.32543. Am J Med Genet A. 2008. PMID: 18925670

2

Errors in the prenatal diagnosis of children with achondroplasia.

Modaff P, Horton VK, Pauli RM. Modaff P, et al. Prenat Diagn. 1996 Jun;16(6):525-30. doi: 10.1002/(SICI)1097-0223(199606)16:6<525::AID-PD909>3.0.CO;2-N. Prenat Diagn. 1996. PMID: 8809893

3

Jugular bulb dehiscence in achondroplasia.

Pauli RM, Modaff P. Pauli RM, et al. Among authors: modaff p. Int J Pediatr Otorhinolaryngol. 1999 May 5;48(2):169-74. doi: 10.1016/s0165-5876(99)00033-6. Int J Pediatr Otorhinolaryngol. 1999. PMID: 10375043

4

Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken.

Pauli RM, Modaff P, Sipes SL, Whyte MP. Pauli RM, et al. Among authors: modaff p. Am J Med Genet. 1999 Oct 29;86(5):434-8. doi: 10.1002/(sici)1096-8628(19991029)86:5<434::aid-ajmg8>3.0.co;2-c. Am J Med Genet. 1999. PMID: 10508985

5

Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia.

Reynolds KK, Modaff P, Pauli RM. Reynolds KK, et al. Among authors: modaff p. Am J Med Genet. 2001 Jun 1;101(1):40-5. doi: 10.1002/ajmg.1307. Am J Med Genet. 2001. PMID: 11343336

6

Natural history of rhizomelic chondrodysplasia punctata.

White AL, Modaff P, Holland-Morris F, Pauli RM. White AL, et al. Among authors: modaff p. Am J Med Genet A. 2003 May 1;118A(4):332-42. doi: 10.1002/ajmg.a.20009. Am J Med Genet A. 2003. PMID: 12687664

7

Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth.

Raca G, Artzer A, Thorson L, Huber S, Modaff P, Laffin J, Pauli RM. Raca G, et al. Among authors: modaff p. Am J Med Genet A. 2009 Nov;149A(11):2437-43. doi: 10.1002/ajmg.a.33083. Am J Med Genet A. 2009. PMID: 19876905

8

Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.

Dwyer E, Hyland J, Modaff P, Pauli RM. Dwyer E, et al. Among authors: modaff p. Am J Med Genet A. 2010 Dec;152A(12):3043-50. doi: 10.1002/ajmg.a.33736. Am J Med Genet A. 2010. PMID: 21077202 Review.

9

Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR.

Borovik L, Modaff P, Waterham HR, Krentz AD, Pauli RM. Borovik L, et al. Among authors: modaff p. Am J Med Genet A. 2013 Aug;161A(8):2066-73. doi: 10.1002/ajmg.a.36019. Epub 2013 Jul 3. Am J Med Genet A. 2013. PMID: 23824842

10

Airway malacia in children with achondroplasia.

Dessoffy KE, Modaff P, Pauli RM. Dessoffy KE, et al. Among authors: modaff p. Am J Med Genet A. 2014 Feb;164A(2):407-14. doi: 10.1002/ajmg.a.36303. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311312

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