نتایج جستجو برای: kallmann syndrome

تعداد نتایج: 621960  

2013
Scarano Valentina De Santis Daniele Suppressa Patrizia Lastella Patrizia Lenato Gennaro Mariano Triggiani Vincenzo Sabbà Carlo

A 65-year-old man was referred to our clinic for the rehabilitation of right hemiparesis caused by ischaemic stroke. Hypertension, postphlebitic syndrome of lower limbs, frequent nose bleeding, and anemia were present in his history; in his adolescence, he was treated for idiopathic hypogonadotropic hypogonadism. Further investigations have revealed also microsomia, suggesting a clinical diagno...

2013
Nicolas Simonis Isabelle Migeotte Nelle Lambert Camille Perazzolo Deepthi C de Silva Boyan Dimitrov Claudine Heinrichs Sandra Janssens Bronwyn Kerr Geert Mortier Guy Van Vliet Philippe Lepage Georges Casimir Marc Abramowicz Guillaume Smits Catheline Vilain

BACKGROUND Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable additional features. All the reported cases occurred sporadically. Although several causal genes of HPE and ectrodactyly have been identified, the genetic cause of Hartsfield syndrome remains unknown. We hypothesised that a single key ...

2017
Franz Josef Kallmann Franz Kallmann

Franz Josef Kallmann studied the biological and genetic factors of psychological disorders in Germany and the United States in the twentieth century. His studies at the New York State Psychiatric Institute in New York City, New York, focused on the genetic factors that cause psychiatric disorders. Kallmann was one of the first to use twins to study how a mental disorder is passed on by comparin...

Journal: :The Journal of clinical investigation 2014
Daniela Ragancokova Elena Rocca Anne M M Oonk Herbert Schulz Elvira Rohde Jan Bednarsch Ilse Feenstra Ronald J E Pennings Hagen Wende Alistair N Garratt

The olfactory bulb (OB) receives odor information from the olfactory epithelium and relays this to the olfactory cortex. Using a mouse model, we found that development and maturation of OB interneurons depends on the zinc finger homeodomain factor teashirt zinc finger family member 1 (TSHZ1). In mice lacking TSHZ1, neuroblasts exhibited a normal tangential migration to the OB; however, upon arr...

2011
Shobhit Jain Hyung-Goo Kim Felicitas Lacbawan Irene Meliciani Wolfgang Wenzel Ingo Kurth Josefina Sharma Morris Schoeneman Svetlana Ten Lawrence C Layman Elka Jacobson-Dickman

CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of featu...

Journal: :Mechanisms of Development 2000
Olivier Ardouin Renaud Legouis Laurent Fasano Brigitte David-Watine Henri Korn Jean-Pierre Hardelin Christine Petit

The gene underlying X chromosome-linked Kallmann syndrome, KAL-1, has been identified for several years, yet its role in development is still poorly understood. In order to take advantage of the zebrafish as a model in developmental genetics, we isolated the two KAL-1 orthologues, kal1.1 and kal1.2, in this species. Comparison of deduced protein sequences with the human one shows 75.5 and 66.5%...

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