scholarly journals Familial Type C Syndrome of Insulin Resistance and Short Stature with Possible Autosomal Dominant Transmission.

1989 ◽  
Vol 36 (3) ◽  
pp. 349-358 ◽  
Author(s):  
FUMIKO NAKAMURA ◽  
MASATO TAIRA ◽  
NAOTAKE HASHIMOTO ◽  
HIDEICHI MAKINO ◽  
NOZOMU SASAKI
Keyword(s):  
Insulin Resistance ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Familial Type ◽  
Type C

scholarly journals Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

2017 ◽  
Vol 20 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Alfonso Hisado-Oliva ◽  
Alba Ruzafa-Martin ◽  
Lucia Sentchordi ◽  
Mariana F A Funari ◽  
Carolina Bezanilla-López ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Autosomal Dominant

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome

1984 ◽  
Vol 18 (1) ◽  
pp. 67-77 ◽  
Author(s):  
Judith K. Stern ◽  
Mark S. Lubinsky ◽  
Daniel S. Durrie ◽  
John R. Luckasen ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Premature Birth ◽  
Autosomal Dominant

scholarly journals A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes

2004 ◽  
Vol 24 (1) ◽  
pp. 104-104 ◽  
Author(s):  
Frédéric Leprêtre ◽  
Francis Vasseur ◽  
Martine Vaxillaire ◽  
Philipp E. Scherer ◽  
Saira Ali ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Type 2 Diabetes ◽  
Nonsense Mutation ◽  
Familial Type

Autosomal dominant transmission of nevus sebaceous of Jadassohn

2012 ◽  
Vol 18 (11) ◽  
Author(s):  
Cameron West ◽  
Swetha Narahari ◽  
Shawn Kwatra ◽  
Steven Feldman
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Nevus Sebaceous

Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature

2017 ◽  
Vol 173 (12) ◽  
pp. 3189-3194 ◽  
Author(s):  
Niu Li ◽  
Guoying Chang ◽  
Yufei Xu ◽  
Yu Ding ◽  
Guoqiang Li ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Fatty Liver ◽  
Short Stature ◽  
Gpd1 Gene ◽  
Biallelic Mutations

Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission

1984 ◽  
Vol 105 (1) ◽  
pp. 47-51 ◽  
Author(s):  
Reuben D. Rohn ◽  
Mary S. Leffell ◽  
Paul Leadem ◽  
David Johnson ◽  
Thomas Rubio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Pharyngeal Pouch ◽  
Autosomal Dominant Transmission

scholarly journals Noonan syndrome: a clinical and genetic study of 31 patients

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez
Keyword(s):  
Congenital Anomaly ◽  
Short Stature ◽  
Family Member ◽  
Genetic Study ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Clinical Findings ◽  
Multiple Congenital Anomaly ◽  
Genetic Characteristics ◽  
Cardiac Anomalies

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

Cerebro-costo-mandibular syndrome in a father and a female fetus: early prenatal ultrasonographic diagnosis and autosomal dominant transmission

2001 ◽  
Vol 21 (10) ◽  
pp. 890-893 ◽  
Author(s):  
Gilles Morin ◽  
Jean Gekas ◽  
Philippe Naepels ◽  
Jean Gondry ◽  
Bernard Devauchelle ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Female Fetus ◽  
Ultrasonographic Diagnosis ◽  
Autosomal Dominant Transmission

The pseudo-posterior limiting layer syndrome: a vitreoretinal heredodegeneration with autosomal dominant transmission

1995 ◽  
Vol 233 (12) ◽  
pp. 805-806
Author(s):  
M.P. Snead ◽  
D.K. Newmann ◽  
A. Poulson ◽  
J.D. Scott ◽  
J. Rossier ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Transmission

scholarly journals Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due toCYP24A1Mutations: Effects of Ketoconazole Therapy

2012 ◽  
Vol 97 (3) ◽  
pp. E423-E427 ◽  
Author(s):  
Peter J. Tebben ◽  
Dawn S. Milliner ◽  
Ronald L. Horst ◽  
Peter C. Harris ◽  
Ravinder J. Singh ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Transmission
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