81. Clinical Study 01-CH-0191, Carrier Frequency And Incidence Of Title Carrier Frequency and Incidence of SmithLemli-opitz syndrome in African AmericansNumber 01-CH-0191 Summary RSH/Smith-Lemli-opitz syndrome (SLOS) is http://clinicalstudies.info.nih.gov/detail/B_2001-CH-0191.html

82. Directory :: Look.com opitz syndrome (5) See Also. Syndrome. NORD opitz syndrome A look atthe alternate names, a general discussion and resources. National http://www.look.com/searchroute/directorysearch.asp?p=524281

83. Publications - Biochemistry Of Inherited Brain Disorders J., Krauß S., Ropers HH, Schneider R., Schweiger S. MID1, mutated in opitz syndrome,encodes a ubiquitin ligase that targets phophatase 2A for degradation. http://www.molgen.mpg.de/~abt_rop/biochemistry/publications.html

Projects Team Collaborators Publications Trockenbacher A., Suckow V., Foerster J., Winter J., Krauß S., Ropers H.H., Schneider R., Schweiger S. MID1, mutated in Opitz syndrome, encodes a ubiquitin ligase that targets phophatase 2A for degradation. nature genetics in press Schweiger S., Trockenbacher A., Suckow V., Foerster J., Winter J., Krauss S., Ropers H.H., Schneider R. (2001) The gene product underlying Opitz syndrome, MID1, triggers ubiquitin-dependent degradation of phosphatase 2A via binding to ist regulatory alpha4 subunit. Eur. J. Hum. Genet. Schweiger S., Trockenbacher A., Suckow V., Krauß S., Ropers H.H., Schneider R. (2000) the Opitz syndrome gene product, MID1, interacts with the gene product of an X-chromosomal gene mapping to the linkage interval of FG syndrome. Am. J. Hum. Genet. Scheer M.P., van der Maarel S., Kübart S., Schulz A., Wirth J., Schweiger S., Ropers H.H., Nothwang H.G. (2000) DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner. Genomics Schweiger S., Foerster J., Lehmenn T., Suckow V., Muller Y.A., Walter G., Davies T., Porter H., van Bokhoven H., Lunt P.W., Traub P., Ropers H.H. (1999) The Opitz syndrome gene product, MID1, associates with microtubules.

84. SMITH-LEMLI-OPITZ SYNDROME SMITHLEMLI-opitz syndrome. DEFINITION (1999). Smith-Lemli-opitz syndromea treatable inherited error of metabolism causing mental retardation. http://www.icondata.com/health/pedbase/files/SMITH-LE.HTM

Pediatric Database (PEDBASE) Discipline: MET Last Updated: 10/01/2001 SMITH-LEMLI-OPITZ SYNDROME DEFINITION: A disorder of lipid metabolism characterized by a defect in cholesterol synthesis resulting in facial dysmorphisms, neurological and behavioural manifestations, and multiple congenital abormalities. EPIDEMIOLOGY: incidence: 1/20,000-40,000 age of onset: newborn period risk factors: familial - autosomal recessive chrom. #: 11q13.2-13.5 gene: 7-dehydrocholesterol-deta-7-reductase (DHCR7) M = F Caucasian population of North European origin PATHOGENESIS: 1. Background Smith-Lemli-Opitz Syndrome (SLO) was first described in 4 patients in 1964 by Smith et al. (Am. J. Med. Genetics 50:344) SLO first associated with a defect in cholesterol synthesis in 1994 (Tint et al., N. Eng. J. Med 330:107) 7-dehydrocholesterol-deta-7-reductase is the enzyme catalyzing the final step in cholesterol synthesis. A reduction in the activity of this enzyme results in elevated levels of the cholesterol precursor 7-dehydrocholesterol (7-DHC) in all tissues and a decreased production of cholesterol. 2. Genetic Defect

85. Final Diagnosis -- Case 91 1). The syndrome was first called RSH syndrome, which derived from the surnamesof the three families, and later was named SmithLemli-opitz syndrome (SLOS). http://path.upmc.edu/cases/case91/dx.html

Final Diagnosis Smith-Lemli-Optiz Syndrome FINAL DIAGNOSIS: SMITH-LEMLI-OPITZ SYNDRME ( On-line reference ); CHROMOSOME 7q32.1 In 1964, Smith, Lemli, and Opitz described 3 unrelated male children with microcephaly, mental retardation, hypotonia, incomplete development of male genitalia, and dysmorphic facial features including high nasal bridge, long philtrum and board dental ridges( Cholesterol is a unique compound which is an important precursor for membrane lipids (including CNS myelin), gonadal and adrenal hormones, and bile acids. Therefore, it is not surprising that the inability to synthesis cholesterol would have far-reaching detrimental effects on the CNS, sexual, facial and skeletal development. It is also possible that elevated intermediate metabolites, such as 7-dehydrocholesterol, may have teratogenic effects on varies organ and skeletal development. With the advance in understanding of the biochemical mechanism of Smith-Lemli-Opitz syndrome, replacement therapy has been proposed and is currently under active investigation. Dietary intervention has been planned, because of previous success for dietary modification in the treatment of metabolic disorders, such as PKU (restricting the diet to prevent accumulation of harmful precursors) and congenital hypothyroidism (replacement of what is lacking). Current dietary intervention plans focus on providing cholesterol and bile acids in the diet to bypass their metabolic block, and such replacement therapy is under evaluation(14) (http://www.stepstn.com/nord/rdb_sum/292.htm).

86. MSN Health - Smith Lemli opitz syndrome Important It is possible that the main title ofthe report Smith Lemli opitz syndrome is not the name you expected. http://content.health.msn.com/NR/internal.asp?GUID={E6CFBBB8-BA9D-4A81-ACEC-9CD6

87. Health Library - Opitz Syndrome SEARCH. opitz syndrome. Founded 1994.Support, encouragement, education, and sharingof successes and ideas for families affected by OpitzG/BBB Syndrome. http://www.muskogeehealth.com/Library/HealthGuide/SelfHelp/topic.asp?hwid=shc29o

88. Opitz G/BBB Syndrome Support network for family members whose children have opitzG/BBB syndrome. http://rkymtnhi.com/opitz/

Click: http://www.opitznet.org Logo was designed for our network specifically and is used under license of Karen G. Frandsen. You have reached the website of of the Opitz G/BBB Family Network. For more information on Opitz G/BBB syndrome and its challenges click to enter This is NOT the website of Dr. Opitz "We share your hopes and dreams, your ideas, your sadness, your happiness and your excitement in the tiniest accomplishments." email opitznet@mac.com pilartanoira@fibertel.com.ar para mas informacion Opitz G/BBB Family Network, Inc Nothing at this site is intended for diagnosis.

89. Smith-Lemli-Opitz (SLO/RSH) Syndrome described in 1964 in three families with surnames beginning with R, S, and H. Theresearchers (Smith, Lemli and opitz) therefore called this syndrome RSH. . http://gslc.genetics.utah.edu/units/newborn/infosheets/SLO.cfm

Genetic Science Learning Center at the Eccles Institute of Human Genetics University of Utah Home ... Full Medical Reports Smith-Lemli-Opitz (SLO/RSH) Syndrome Smith-Lemli-Opitz (SLO/RSH) Syndrome The first three cases of this disorder were described in 1964 in three families with surnames beginning with R, S, and H. The researchers (Smith, Lemli and Opitz) therefore called this syndrome "RSH." Individuals with SLO/RSH syndrome are unable to make cholesterol, an essential nutrient required for proper development of cell membranes and the white matter of the brain. Because cholesterol is not provided to the developing fetus by the mother during pregnancy, symptoms develop before birth. As development continues after birth, lack of cholesterol can result in a variety of symptoms which vary in severity from individual to individual. Symptoms include growth retardation, developmental delay, feeding difficulties, behavioral problems and physical malformations such as small head, cleft palate, cataracts, drooping eyelids, extra (sixth) fingers or toes, webbing between the second and third toes, male genital malformations and heart defects. Genetics SLO/RSH syndrome results from a mutation in either the DHCR7 gene on chromosome 11 or the SLOS gene on chromosome 7. These genes code for essential enzymes required for the synthesis of cholesterol.

90. Smith-lemli-opitz, Syndrome : Arborescences MeSH Translate this page Smith-lemli-opitz, syndrome. Menu général CISMeF. maladies et malformationscongénitales, héréditaires et néonatales C16 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navismithlemliopitzsyndrome.html

Smith-lemli-opitz, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies et malformations congénitales, héréditaires et néonatales malformations malformations multiples Alagille, syndrome ... xanthomatose cérébrotendineuse 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

91. Opitz (Frais) Syndrome (BBB Syndrome, Hypertelorism Hypospadias Syndrome, Teleca HOME opitz (Frais) syndrome (BBB syndrome, HypertelorismHypospadiassyndrome, Telecanthus Associated Abnormalities). http://www.bdid.com/opitz.htm

HOME Opitz (Frais) Syndrome (BBB Syndrome, Hypertelorism-Hypospadias Syndrome, Telecanthus Associated Abnormalities) Canadian Opitz Family Network Opitz Syndrome HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS OPITZ SYNDROME ... bbb syndrome Type I/X-Linked OPITZ SYNDROME HOME

92. Opitz Trigonocephaly Syndrome Family Network Email us at otsfn@otsfn.org. opitz Trigonocephaly syndrome Family ConferenceJuly 25-27, 2002 in New Orleans, LA. What is opitz Trigonocephaly syndrome? http://www.geocities.com/HotSprings/Villa/1407/

Online since 3-3-98 Sign Guestbook View Guestbook View Old Guestbook E-mail us at otsfn@otsfn.org Opitz Trigonocephaly Syndrome Family Conference July 25-27, 2002 in New Orleans, LA If interested in attending please send us an email. News The previous transcript from the Opitz Family Conference has been replaced with a summary written by Dr. Bohring Pictures from the Conference are now online! We've been busy scanning. There are now 16 pictures online. Opitz Family Conference First International Opitz Family Conference June 4-7, 1998 Salt Lake City, Utah The conference was a big success. There were 62 families from 10 countries in attendance. We got to meet a lot of really great people from all over the world. As always it was nice to put faces with names and finally meet people who we had communicated with over the net or the telephone. In the near future we will be adding pictures and other memorabilia from the conference to the OTSFN page. Dr. Axel Bohring of Utin, Germany was the guest speaker for the C Syndrome break out session on Friday, June 5. Dr. Bohring is an expert on the C Syndrome and is currently doing research with Dr. Opitz and Dr. Max Muenke of Bethesda, Maryland. Dr. Muenke is currently working to map the gene that causes C Syndrome. According to estimates we heard at the conference, the gene mapping process will take three to five years. My understanding is that once the gene is mapped a test will be available to determine if someone is a carrier of the syndrome. During his talk Dr. Boring gave background information on the syndrome and discussed the latest research. One of the newest discoveries is that there are four variations of C Syndrome. As we will let you know when we find out more about the variations.

93. Katalog - Wirtualna Polska Serwis Katalog w Wirtualna Polska S.A. pierwszy portal w Polsce. http://katalog.wp.pl/DMOZ/Health/Conditions_and_Diseases/Genetic_Disorders/Opitz

Poczta Czat SMS Pomoc Szukaj.wp.pl: -Katalog -Polskie www -¦wiatowe www -Wirtualna Polska -FTP/Pliki -Grupy dyskusyjne -Encyklopedia -Produkty wp.pl Katalog Katalog ¦wiatowy DMOZ ... Conditions and Diseases > Genetic Disorders Fakty o Katalogu Pomoc Regulamin Serwis szukaj ... Ostatnio dodane NAWIGACJA Fakty o katalogu Pomoc Regulamin Serwis Szukaj ... FAQ Dodaj stronê Katalog WP Polskie Strony WWW Oferta dla firm WP-HIT ... Wirtualna Polska

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