Marjan Nezarati: search on Z-Library

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1

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

Nezarati, Marjan M., Aftimos, Salim

Journal:

Clinical Dysmorphology

Year:

2007

Language:

english

File:

PDF, 246 KB

english, 2007

2

Detecting rearrangements in children using subtelomeric FISH and SKY

Blaise Clarkson, Katerina Pavenski, Lucie Dupuis, Shelley Kennedy, Stephen Meyn, Marjan M. Nezarati, Gloria Nie, Rosanna Weksberg, Stephen Withers, Nada Quercia, Ahmad S. Teebi, Ikuko Teshima

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 477 KB

english, 2002

3

7. Homozygosity mapping in Mabry syndrome: A syndrome with hyperphosphatasia with seizures, neurologic deficit and characteristic facial features

Miles D. Thompson, Marjan M. Nezarati, Charleton C. Mabry, Matthew A. Deardorff, Gabriele Gillessen-Kaesbach, Peter Meinecke, Catherine Prost Squarcioni, Laurence Legeai-Mallet, Arnold Munnich, Kathy

Journal:

Clinical Neurophysiology

Year:

2009

Language:

english

File:

PDF, 45 KB

english, 2009

4

13. Homozygosity mapping of Mabry syndrome: Identification of loci associated with alkaline phosphatase (ALP) gene over-expression or ALP protein over secretion

Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen-Kaesbach, Peter Meinecke, Etienne Mornet, Isabelle Brun-Heath, Catherine Prost Squarcioni, David E.C. Cole, Kathy Siminovitch, Paul A. Hwang,

Journal:

Clinical Neurophysiology

Year:

2011

Language:

english

File:

PDF, 44 KB

english, 2011

5

Hyperphosphatasia With Neurologic Deficit: A Pyridoxine-Responsive Seizure Disorder?

Miles D. Thompson, Annie Killoran, Maire E. Percy, Marjan Nezarati, David E.C. Cole, Paul A. Hwang

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 553 KB

english, 2006

6

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M.

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 645 KB

english, 2012

7

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

Alasdair G.W. Hunter, Marjan M. Nezarati, Lea Velsher

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 165 KB

english, 2010

8

A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

Tawfeg I. Ben-Omran, Karen Cerosaletti, Patrick Concannon, Sheila Weitzman, Marjan M. Nezarati

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 111 KB

english, 2005

9

Corrigendum to “Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome” Am J Med Genet 152A: 1661-1669

Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen-Kaesbach, Peter Meinecke, Roberto Mendoza-Londono, Etienne Mornet, Isabelle Brun-Heath, Catherine Prost Squarcioni, Laurence Legeai-Mallet, Ar

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 39 KB

english, 2011

10

Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis

Ladhani, Noor Niyar N., Chitayat, David, Nezarati, Marjan M., Laureane, Mittaz Crettol, Keating, Sarah, Silver, Rachel J., Unger, Sheila, Velsher, Lea, Sirkin, Wilma, Toi, Ants, Glanc, Phyllis

Journal:

Prenatal Diagnosis

Year:

2013

Language:

english

File:

PDF, 1.23 MB

english, 2013

11

Cenani-Lenz syndrome: report of a new case and review of the literature

Nezarati, Marjan M., McLeod, D. Ross

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 209 KB

english, 2002

12

Neurofibromatosis Type I as a Model of Autosomal Dominant Inheritance

Lucie Dupuis, Marjan M. Nezarati

Journal:

Pediatric Dermatology

Year:

2001

Language:

english

File:

PDF, 132 KB

english, 2001

13

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Girirajan, Santhosh, Vlangos, Christopher N, Szomju, Barbara B, Edelman, Emily, Trevors, Christopher D, Dupuis, Lucie, Nezarati, Marjan, Bunyan, David J, Elsea, Sarah H

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 1.56 MB

english, 2006

14

Prenatal Presentation of Hereditary Hemorrhagic Telangiectasia - A Report of Two Sibs

Saleh, Maha, Miron, Ioana, Al-Rukban, Hadeel, Chitayat, David, Nezarati, Marjan M.

Journal:

Prenatal Diagnosis

Year:

2016

Language:

english

File:

PDF, 400 KB

english, 2016

15

MG-104 Fetal jugular lymph sacs – what is the significance?: Abstract MG-104 Table 1

Nezarati, Marjan M, Bedford, HMelanie, Chong, Karen, Toi, Ants, Chitayat, David

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 60 KB

english, 2015

16

Characterizing the oculoauriculofrontonasal syndrome

Gabbett, Michael T., Robertson, Stephen P., Broadbent, Roland, Aftimos, Salim, Sachdev, Rani, Nezarati, Marjan M.

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

17

MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of lowâlevel mosaicism in an unaffected parent

Su, Julia X., Velsher, Lea S., Juusola, Jane, Nezarati, Marjan M.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 2.67 MB

2020

18

Novel mutation in the Δ-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome

Marjan M. Nezarati, Judith Loeffler, Grace Yoon, Linda MacLaren, Ernest Fung, Floyd Snyder, Gerd Utermann, Gail E. Graham

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 205 KB

english, 2002

19

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

Miles D. Thompson, Tony Roscioli, Carlo Marcelis, Marjan M. Nezarati, Irene Stolte-Dijkstra, Frances J. Sharom, Peihua Lu, John A. Phillips, Elizabeth Sweeney, Peter N. Robinson, Peter Krawitz, Helger

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 218 KB

english, 2012

20

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen-Kaesbach, Peter Meinecke, Roberto Mendoza, Etienne Mornet, Isabelle Brun-Heath, Catherine Prost Squarcioni, Laurence Legeai-Mallet, Arnold Mun

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 283 KB

english, 2010

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