Joy C Bryant

发表

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.

P. Choyke, W. Gahl, M. Gunay‐Aygun, 2020, Molecular genetics and metabolism.

Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease

P. Choyke, W. Gahl, M. Gunay‐Aygun, 2012, Journal of pediatric gastroenterology and nutrition.

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.

W. Gahl, M. Huizing, M. Gunay‐Aygun, 2010, Molecular genetics and metabolism.

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

P. Choyke, W. Gahl, B. Turkbey, 2011, Molecular genetics and metabolism.

Effect of Antiandrogen, Aromatase Inhibitor, and Gonadotropin‐releasing Hormone Analog on Adult Height in Familial Male Precocious Puberty

G. Cutler, K. Barnes, E. Leschek, 2017, The Journal of pediatrics.

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

J. Mullikin, C. Toro, W. Gahl, 2015, Journal of Medical Genetics.

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

P. Choyke, J. Naggert, W. Gahl, 2018, Molecular genetics and metabolism.

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

J. Naggert, A. Arai, W. Gahl, 2017, Molecular genetics and metabolism.

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

Olga A. Stakhovskaya, J. Naggert, W. Gahl, 2017, American journal of medical genetics. Part A.

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Baris Turkbey, Peter L. Choyke, Iclal Ocak, 2009, Pediatric Radiology.

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.

J. Troendle, W. Gahl, V. Sachdev, 2011, Molecular genetics and metabolism.

Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls

J. Naggert, E. Turkbey, W. Gahl, 2018, The Journal of clinical endocrinology and metabolism.

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

J. Mullikin, C. Toro, W. Gahl, 2016, Journal of Medical Genetics.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center

J. Mullikin, P. Choyke, I. Glass, 2017, Journal of pediatric gastroenterology and nutrition.

Prospective Evaluation of Kidney Disease in Joubert Syndrome.

J. Mullikin, P. Choyke, I. Glass, 2017, Clinical journal of the American Society of Nephrology : CJASN.

Fibrocystic disease of liver and pancreas; under‐recognized features of the X‐linked ciliopathy oral‐facial‐digital syndrome type 1 (OFD I)

W. Gahl, M. Gunay‐Aygun, T. Heller, 2010, American journal of medical genetics. Part A.

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

P. Choyke, D. Douek, M. Sincan, 2013, Gastroenterology.

Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease.

Z. Quezado, W. Gahl, B. Turkbey, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Prospective phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI)

Ellen F. Macnamara, E. Chew, E. Dikoglu, 2020, Genetics in Medicine.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

J. Mullikin, Nisc Comparative Sequencing Program, W. Gahl, 2017, Human Genetics.

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency

W. Gahl, M. Gunay‐Aygun, J. Stephen, 2017, American journal of medical genetics. Part A.

Respiratory manifestations in 38 patients with Alström syndrome

M. Gunay‐Aygun, K. Olivier, J. Marshall, 2017, Pediatric pulmonology.