Dominant-negative diabetes insipidus and other endocrinopathies

Por Phillips, John A.
Publicado em 2003

GENETIC AND OTHER HEALTH PROBLEMS ASCERTAINED IN FAMILIES OF THE DAUGHTERS OF THE AMERICAN REVOLUTION

Por Butler, Merlin G, Babe, Kenneth S., Phillips, John A.
Publicado no Dysmorphol Clin Genet (1991)

Analysis of 13q RFLP in Multiple Endocrine Neoplasia Type II Kindreds

Por DESCHAMPS, MARGUERITE, BUTLER, MERLIN G., PHILLIPS, JOHN A.
Publicado no Cancer Genet Cytogenet (1987)

Genetics of Pulmonary Arterial Hypertension

Por Austin, Eric D., Loyd, James E., Phillips, John A.
Publicado em 2009

A novel SHOC2 variant in Rasopathy

Por Hannig, Vickie, Jeoung, Myoungkun, Jang, Eun Ryoung, Phillips, John A., Galperin, Emilia
Publicado em 2014

High Resolution Chromosome and DNA Analysis in Multiple Endocrine Neoplasia Type II Syndrome

Por Butler, Merlin G., Repaske, David R., Joseph, Geeta M., Phillips, John A.
Publicado no Cancer Genet Cytogenet (1987)

Growth Hormone Deficiency and Splicing Fidelity: TWO SERINE/ARGININE-RICH PROTEINS, ASF/SF2 AND SC35, ACT ANTAGONISTICALLY

Por Solis, Amanda S., Peng, Rui, Crawford, J. Barrett, Phillips, John A., Patton, James G.
Publicado em 2008

Mutation Analysis of the Muscarinic Cholinergic Receptor Genes in Isolated Growth Hormone Deficiency Type IB

Por Mohamadi, Ali, Martari, Marco, Holladay, Cindy D., Phillips, John A., Mullis, Primus E., Salvatori, Roberto
Publicado em 2009

Analysis of Immunoglobulin Heavy Chain Restriction Fragment Length Polymorphisms in IgA Nephropathy

Por Julian, Bruce A., Phillips, John A., Orlando, Pamela J., Wyatt, Robert J., Butler, Merlin G.
Publicado no Semin Nephrol (1987)

Rescue of Pituitary Function in a Mouse Model of Isolated Growth Hormone Deficiency Type II by RNA Interference

Por Shariat, Nikki, Ryther, Robin C. C., Phillips, John A., Robinson, Iain C. A. F., Patton, James G.
Publicado em 2008

Brief Clinical Report and Review: Two Patients With Ring Chromosome 15 Syndrome

Por Butler, Merlin G., Fogo, Agnes B., Fuchs, David A., Collins, Francis S., Dev, Viathilingam G., Phillips, John A.
Publicado no Am J Med Genet (1988)

FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION

Por Strakowski, Stephen M., Butler, Merlin G., Cheek, James W., Moore, William T., Netterville, James L., Phillips, John A.
Publicado no Dysmorphol Clin Genet (1988)

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita

Por Parry, Erin M, Alder, Jonathan K, Lee, Stella S, Phillips, John A, Loyd, James E, Duggal, Priya, Armanios, Mary
Publicado em 2011

Genetic Anticipation and Abnormal Gender Ratio at Birth in Familial Primary Pulmonary Hypertension

Por LOYD, JAMES E., BUTLER, MERLIN G., FOROUD, TATIANA M., CONNEALLY, P. MICHAEL, PHILLIPS, JOHN A., NEWMAN, JOHN H.
Publicado no Am J Respir Crit Care Med (1995)

Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance

Por West, James, Cogan, Joy, Geraci, Mark, Robinson, Linda, Newman, John, Phillips, John A, Lane, Kirk, Meyrick, Barbara, Loyd, Jim
Publicado em 2008

Penetrance of Pulmonary Arterial Hypertension is modulated by the expression of normal BMPR2 allele

Por Hamid, Rizwan, Cogan, Joy D., Hedges, Lora K., Austin, Eric, Phillips, John A., Newman, John H., Loyd, James E.
Publicado em 2009

A case of late recurrence of Burkitt's Lymphoma presenting with abdominal masses and haematemesis

Por Bong, Chin-Nam, Chen, Solomon CC, Barr, Alexander David, Yu, Kwongleung, Hsieh, Tsung-Che, Tok, Teck-Siong, Phillips, John A
Publicado em 2007

The Presence of Genetic Anticipation Suggests That the Molecular Basis of Familial Primary Pulmonary Hypertension May Be Trinucleotide Repeat Expansion*

Por Loyd, James E., Slovis, Bonnie, Phillips, John A., Butler, Merlin G., Foroud, Tatiana M., Conneally, P. Michael, Newman, John H.
Publicado no Chest (1997)

Proteomics of Transformed Lymphocytes from a Family with Familial Pulmonary Arterial Hypertension

Por Meyrick, Barbara O., Friedman, David B., Billheimer, D. Dean, Cogan, Joy D., Prince, Melissa A., Phillips, John A., Loyd, James E.
Publicado em 2008

A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II

Por Hamid, Rizwan, Phillips, John A., Holladay, Cindy, Cogan, Joy D., Austin, Eric D., Backeljauw, Philippe F., Travers, Sharon H., Patton, James G.
Publicado em 2009