KyrieckosAAleckMD

Medical Genetics • Phoenix, AZ

Clinical Biochemical Genetics, Clinical Cytogenetics, Clinical Genetics

Professor of Pediatrics, University Ariz College of Medicine

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Office
1919 E Thomas Rd
Phoenix, AZ 85016
Phone+1 602-933-4363

Fax+1 602-933-2415
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Education & Training

Los Angeles County-Harbor-UCLA Medical CenterResidency, Pediatrics, 1974 - 1978
Los Angeles County-Harbor-UCLA Medical CenterInternship, Transitional Year, 1973 - 1974
Washington University in St. Louis School of MedicineClass of 1973

Certifications & Licensure

CA State Medical License 1975 - Present
AZ State Medical License 1978 - 2026
NM State Medical License 1986 - 2024
IL State Medical License 1983 - 1987
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Cytogenetics
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Pediatrics Pediatrics

Awards, Honors, & Recognition

Top Doctors:Arizona State Castle Connolly, 2013

Publications & Presentations

PubMed

3 citations
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler, Alison Schreiber, Adnan Alsadah, Derek E Neilson, Karin Naess, Anna Wedell, Anna Wreden...> ;Brain. 2023 Apr 19
14 citations
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
David A. Dyment, Anne H. O’Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, Ping-Yee B Au, Hatip Aydin, Alan ...> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
21 citations
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Powis, Z., Powis, Z., Farwell Hagman, K. D., Farwell Hagman, K. D., Mroske, C., Mroske, C., McWalter, K., McWalter, K., Cohen, J. S., Cohen, J. S., Colombo, R., Colomb...> ;Clinical genetics. 2017 Sep 8
71 citations
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Estelle Colin, Jens Daniel, Alban Ziegler, Jamal Wakim, Aurora Scrivo, Tobias B. Haack, Salim Khiati, Anne-Sophie Denommé, Patrizia Amati-Bonneau, Majida Charif, Vince...> ;American Journal of Human Genetics. 2016 Sep 1
11 citations
Lysinuric protein intolerance in a family of Mexican ancestry with a novel SLC7A7 gene deletion. Case report and review of the literature.
David Carpentieri, Margaret F. Barnhart, Kyrieckos Aleck, Tamir Miloh, Daphne E. deMello> ;Molecular Genetics and Metabolism Reports. 2015 Jan 10
3 citations
Concomitant achondroplasia and Chiari II malformation: A double-hit at the cervicomedullary junction.
Al-Wala Awad, Kyrieckos A. Aleck, Ratan D Bhardwaj> ;World Journal of Clinical Cases. 2014 Nov 16
33 citations
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Claudia M.B. Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B. Ramocki, Chester W. Brown, Jesper Graakjaer, Anne-Bine Skytte, Angela Maria Vianna-...> ;American Journal of Human Genetics. 2014 Nov 6
21 citations
Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy
S. Grace Prakalapakorn, Alan D. Proia, Tammy L. Yanovitch, Stephanie DeArmey, Nancy J. Mendelsohn, Kyrieckos A Aleck, Priya S. Kishnani> ;Journal of Pediatric Ophthalmology and Strabismus. 2014 Aug 20
90 citations
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David J. Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann Bodurtha, Gerald F. Cox, Cynthia J. Curry...> ;Human Mutation. 2010 Oct 1
5 citations
Eccrine Squamous Metaplasia and Periadnexal Granulomas: New Cutaneous Histopathologic Findings in Cardiofaciocutaneous Syndrome
L D O Michelle Jeffries, Kyrieckos A. Aleck, Richard A. Bernert, Ronald C. Hansen> ;Pediatric Dermatology. 2009 Oct 4
41 citations
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
Jennifer J. Johnston, Isabelle M. Olivos-Glander, Joyce T. Turner, Kyrieckos A. Aleck, Lynne M. Bird, Lakshmi Mehta, R. Neil Schimke, Heidi A. Heilstedt, J. Edward Spe...> ;American Journal of Medical Genetics. Part A. 2003 Dec 15
47 citations
True hermaphroditism with partial duplication of chromosome 22 and without SRY.
Kyrieckos A. Aleck, Luis Argueso, John F. Stone, Joseph G. Hackel, Robert P. Erickson> ;American Journal of Medical Genetics. 1999 Jul 2
116 citations
Multiple malformation syndrome following fluconazole use in pregnancy: Report of an additional patient
Kyrieckos A. Aleck, Douglas L. Bartley> ;American Journal of Medical Genetics. 1997 Oct 31
86 citations
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.
Nathaniel H. Robin, George J. Feldman, A L Aronson, H F Mitchell, Rosanna Weksberg, Claire O. Leonard, Barbara K. Burton, Kevin D. Josephson, Renata Laxova, Kyrieckos ...> ;Nature Genetics. 1995 Dec 1
76 citations
METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY
Larry Shapiro, Kyrieckos Aleck, Michael M. Kaback, Hideo Itabashi, Robert J. Desnick, Natan Brand, Richard L. Stevens, Arvan L. Fluharty, Hayato Kihara> ;Pediatric Research. 1979 Oct 1
3 citations
Genetic-Metabolic Considerations in the Sick Neonate
Kyrieckos A. Aleck, Larry J. Shapiro> ;Pediatric Clinics of North America. 1978 Aug 1
Congenital susceptibility to NIDDM. Role of intrauterine environment.
Pettitt, D. J., Aleck, K. A., Baird, H. R., Carraher, M. J., Bennett, P. H., Knowler, W. C.> ;Diabetes. 1988 May
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
Paznekas, W. A., Cunningham, M. L., Howard, T. D., Korf, B. R., Lipson, M. H., Grix, A. W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K., Mulliken, J., Yin, ...> ;Am J Hum Genet. 1998 Jun
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked sp...
Hodes, M. E., Zimmerman, A. W., Aydanian, A., Naidu, S., Miller, N. R., Garcia Oller, J. L., Barker, B., Aleck, K. A., Hurley, T. D., Dlouhy, S. R.> ;Am J Med Genet. 1999 Jan 15
Fumaric aciduria: clinical and imaging features.
Kerrigan, J. F., Aleck, K. A., Tarby, T. J., Bird, C. R., Heidenreich, R. A.> ;Ann Neurol. 2000 May
In utero central nervous system damage in pyruvate dehydrogenase deficiency.
Aleck, K. A., Kaplan, A. M., Sherwood, W. G., Robinson, B. H.> ;Arch Neurol. 1988 Sep
Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis.
Perez-Aytes, A., Graham, J. M., Hersh, J. H., Hoyme, H. E., Aleck, K., Carey, J. C.> ;J Pediatr. 1993 Sep
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Hospital Affiliations

Phoenix Children'sPhoenix, Arizona
St. Joseph's Hospital and Medical CenterPhoenix, Arizona