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1

Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome

Jennifer J. Johnston, Isabelle Olivos-Glander, Joyce Turner, Kyrieckos Aleck, Lynne M. Bird, Lakshmi Mehta, R. Neil Schimke, Heidi Heilstedt, J. Edward Spence, Jan Blancato, Leslie G. Biesecker

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 202 KB

english, 2003

2

Eccrine Squamous Metaplasia and Periadnexal Granulomas: New Cutaneous Histopathologic Findings in Cardiofaciocutaneous Syndrome

Michelle L. Jeffries, Kyrieckos A. Aleck, Richard A. Bernert, Ronald C. Hansen

Journal:

Pediatric Dermatology

Year:

2010

Language:

english

File:

PDF, 620 KB

english, 2010

3

Urinary glycosaminoglycan levels in a mucopolysaccharidosis type II pediatric population receiving idursulfase therapy: datafrom the Hunter Outcome Survey (HOS) for patients aged <18 months

Aleck, Kyrieckos A, Tylki-Szymańska, Anna, Ficicioglu, Can, Burton, Barbara K, Jego, Virginie, Guffon, Nathalie

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 49 KB

english, 2017

4

Orally Administered Liposome-Entrapped Insulin in Diabetic Animals

Arrieta-Molero, Jose F., Aleck, Kyrieckos, Sinha, Madhur K., Brownscheidle, Carol M., Shapiro, Larry J., Sperling, Mark A.

Journal:

Hormone Research

Year:

1982

File:

PDF, 1.02 MB

1982

5

Premedication and dose regimen for a type 1 Gaucher patient with severe ERT intolerance

Woolgar, Kara, Aleck, Kyrieckos, Kinemond, Casandra, Lindstrom, Kristin

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

6

Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient

Aleck, Kyrieckos A., Bartley, Douglas L.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 145 KB

english, 1997

7

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann N. Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael

Journal:

Year:

2010

Language:

english

File:

PDF, 196 KB

english, 2010

8

B- and T-cell immune suppression in a Native American infant with Wolman disease

Julien, Daniel, Wong, Duane W., Miloh, Tamir, Clarke, Daxa, Aleck, Kyrieckos, Lindstrom, Kristin

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 72 KB

english, 2016

9

NIH Public Access

Johnston, Jennifer J, Sapp, Julie C, Turner, Joyce T, Amor, David, Aftimos, Salim, Aleck, Kyrieckos A, Bocian, Maureen, Bodurtha, Joann N, Cox, Gerald F, Cynthia, J

Year:

2011

Language:

english

File:

PDF, 389 KB

english, 2011

10

Suppressibility of glucagon secretion by glucose injuvenile diabetes

Mark A. Sperling, Kyrieckos Aleck, Sandra Voina

Journal:

The Journal of Pediatrics

Year:

1977

Language:

english

File:

PDF, 401 KB

english, 1977

11

Genetic-Metabolic Considerations in the Sick Neonate

Aleck, Kyrieckos A., Shapiro, Larry J.

Journal:

Pediatric Clinics of North America

Year:

1978

Language:

english

File:

PDF, 2.51 MB

english, 1978

12

Superior vena cava syndrome in an infantile onset Pompe patient

Woolgar, Kara, Maenchen, Molly, Aleck, Kyrieckos

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 45 KB

english, 2019

13

True hermaphroditism with partial duplication of chromosome 22 and withoutSRY

Aleck, Kyrieckos A., Argueso, Luis, Stone, John, Hackel, Joseph G., Erickson, Robert P.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 146 KB

english, 1999

14

METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY

Shapiro, Larry J, Aleck, Kyrieckos A, Kaback, Michael M, Itabashi, Hideo, Desnick, Robert J, Brand, Natan, Stevens, Richard L, Fluharty, Arvan L, Kihara, Hayato

Journal:

Pediatric Research

Year:

1979

Language:

english

File:

PDF, 358 KB

english, 1979

15

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Dyment, David A., O'DonnellâLuria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, PingâYee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, K

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 2.78 MB

2020

16

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

Robin, Nathaniel H., Feldman, George J., Aronson, Adam L., Mitchell, Heather F., Weksberg, Rosanna, Leonard, Claire O., Burton, Barbara K., Josephson, Kevin D., Laxová, Renata, Aleck, Kyrieckos A.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 320 KB

1995

17

Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature

Carpentieri, David, Barnhart, Margaret F., Aleck, Kyrieckos, Miloh, Tamir, deMello, Daphne

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 618 KB

english, 2015

18

Robert M. Cohn, Karl S. Roth, ,Metabolic diseases: A guide to early recognition (1983) WB Saunders,Philadelphia 464 $37.50.

André Lascari, Kyrieckos A. Aleck

Journal:

The Journal of Pediatrics

Year:

1984

Language:

english

File:

PDF, 57 KB

english, 1984

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