Search details
1.
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Genet Med
; 23(2): 396-407, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33005041
2.
Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.
Mol Genet Metab
; 131(1-2): 267-276, 2020.
Article
in English
| MEDLINE | ID: mdl-32919899
3.
Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.
Mol Genet Metab
; 125(1-2): 181-191, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30064963
4.
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
J Pediatr Gastroenterol Nutr
; 66(3): 428-435, 2018 03.
Article
in English
| MEDLINE | ID: mdl-29112083
5.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.
Hum Genet
; 136(4): 399-408, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28220259
6.
Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.
Mol Genet Metab
; 121(4): 336-343, 2017 08.
Article
in English
| MEDLINE | ID: mdl-28610912
7.
Effect of Antiandrogen, Aromatase Inhibitor, and Gonadotropin-releasing Hormone Analog on Adult Height in Familial Male Precocious Puberty.
J Pediatr
; 190: 229-235, 2017 11.
Article
in English
| MEDLINE | ID: mdl-29144249
8.
Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.
Am J Med Genet A
; 173(8): 2210-2218, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28573831
9.
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Am J Med Genet A
; 173(3): 661-666, 2017 Mar.
Article
in English
| MEDLINE | ID: mdl-28052552
10.
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 Med Genet
; 53(5): 318-29, 2016 05.
Article
in English
| MEDLINE | ID: mdl-27095636
11.
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
J Med Genet
; 52(12): 830-9, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26386044
12.
Pregnancy in autosomal recessive polycystic kidney disease.
Arch Gynecol Obstet
; 291(3): 705-8, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25214022
13.
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
Gastroenterology
; 144(1): 112-121.e2, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-23041322
14.
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.
J Pediatr Gastroenterol Nutr
; 54(1): 83-9, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-21694639
15.
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Mol Genet Metab
; 103(4): 307-14, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21620748
16.
Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
Mol Genet Metab
; 104(4): 677-81, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-21945273
17.
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Mol Genet Metab
; 99(2): 160-73, 2010 Feb.
Article
in English
| MEDLINE | ID: mdl-19914852
18.
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
Am J Med Genet A
; 152A(10): 2640-5, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20818665
19.
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
J Clin Endocrinol Metab
; 103(7): 2707-2719, 2018 07 01.
Article
in English
| MEDLINE | ID: mdl-29718281
20.
Respiratory manifestations in 38 patients with Alström syndrome.
Pediatr Pulmonol
; 52(4): 487-493, 2017 04.
Article
in English
| MEDLINE | ID: mdl-28029746