81. Pediatrics Head Circumference And Body Proportions Before And by other syndromes (eg, emotional deprivation, severe chronic illness,chondrodysplasia), with the exception of silverrussell syndrome, were excluded. http://www.findarticles.com/p/articles/mi_m0950/is_3_114/ai_n6206676

82. Silver-Russellin Oireyhtymä - Kehitysvamm. Tietopankki A newborn girl with suspected silverrussell syndrome, Nordmann Y, The spectrumof silver-russell syndrome a clinical and molecular genetic study and http://www.saunalahti.fi/kup/syndroma/silver-russell.htm

Kehitysvammahuollon tietopankki Sikiön pienikokoisuus, luuston epäkypsyys, seksuaaliset poikkeavuudet, kolmiomaiset kasvot, maitokahviläiskät ja sormien epämuodostumat Silver-Russellin oireyhtymä Russell-Silverin oireyhtymä Russell-Silverin dwarfismi Oireyhtymä koostuu sikiöaikaisen kasvun vajavuudesta, syntymänjälkeisestä luuston kehityksen epäkypsyydestä, kasvun epäsymmetrisyydestä, seksuaalisen kehityksen poikkeavuudesta, pienistä kolmiomaisista kasvoista, ihon maitokahvimaisista läiskistä, sormijäsenten epämuodostumista, lantion tai kyynärpäiden sijoiltaan menoista ja muista epämuodostumista. Vammautuneen otsa on ulkoneva tai kohoava, alaleuka pieni ja kärjekäs. Kovakalvo (silmämunan valkoinen kerros) on sinertävä. Suu on suuri ja alakulmistaan alaspäin kääntynyt. Sormien ja varpaiden keskijäsenet ovat vajaakasvuiset aiheuttaen koukkuisuutta ja viidensien sormien vinoutumista. Raajojen pitkät luut ovat hontelot ja olkaluut lyhyet. Muita ominaisuuksia ovat verensokerin niukkuus, munuaistiehyiden happomyrkytystila, kasvaneet gonadotropiini-tasot (sukupuolihormonien eritystä sääteleviä hormoneja) ja toisinaan kasvuhormonin vähäisyys. Kasvun hidastuminen ja toisinaan psyykkinen kehitysvammaisuus ovat tyypillisiä piirteitä. Noin kolmanneksella vammautuneista lapsista on siittimen alahalkio ja piilokivekset. Virtsateiden poikkeuksia ovat vesimunuainen, virtsanjohtimien tukos, munuaisaltaan ja munuaisen tulehdus, virtsan takaisinvirtaus ja munuaisten laajentuma.

83. [Frontiers In Bioscience 9, 387-403, January 1, 2004] Grb10 imprinting and silverrussell syndrome; 5. Structure and function of Grb10domains 5.1. Proline rich sequence 5.2. Pleckstrin homology (PH) domain http://www.bioscience.org/2004/v9/af/1226/3.htm

[Frontiers in Bioscience 9, 387-403, January 1, 2004] Grb10: MORE THAN A SIMPLE ADAptor PROTEIN Mei A. Lim , Heimo Riedel , and Feng Liu Department of Pharmacology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, 78229, USA, Department of Biological Sciences, Wayne State University, Detroit, Michigan, 48202, USA TABLE OF CONTENTS 1. Abstract 2. Introduction 3. Grb10 discovery, genomic structure and splice variants 4. Grb10 tissue distribution and imprinting 4.1. Mouse Grb10 4.2. Human Grb10 4.3. Grb10 imprinting and Silver-Russell Syndrome 5. Structure and function of Grb10 domains 5.1. Proline rich sequence 5.2. Pleckstrin homology (PH) domain 5.3. Src homology domain 2 (SH2) domain 5.4. Domain b etween the P H and S H2 (BPS) 6. The role of Grb10 in signaling 6.1. Interaction of Grb10 with receptor tyrosine kinases 6.1.1. Effect of Grb10 on insulin signal transduction 6.1.2. Effect of Grb10 on biological events downstream of IR/IGF-IR 6.1.3. Interaction of Grb10 with other receptor tyrosine kinases 6.2. Interaction of Grb10 with non-receptor kinases

84. Silver-Russells Syndrom - Små Och Mindre Kända Handikappgrupper Craniofacial and dental characteristics of silverrussell syndrome. Growth hormone therapy in Silver Russell Syndrome 5 years experience of the http://www.sos.se/smkh/2001-29-128/2001-29-128.HTM

Socialstyrelsen 106 30 Stockholm Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Silver-Russells syndrom Russell-Silvers syndrom Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik ... Databasreferenser Dokumentdatum: 2001-01-25 HTML-version 1.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Sjukdom/skada/diagnos Orsak till sjukdomen/skadan Symtom Diagnostik Dessutom styrks diagnosen ytterligare om barnet har: 5. Krokiga lillfingrar. Praktiska tips Resurspersoner kerstin.albertsson-wikland@pediat.gu.se

85. Newsletter References Ranke MB, Lindberg A. Growth hormone treatment of short children born small forgestational age or with silverrussell syndrome results from KIGS (Kabi http://www.aap.org/sections/Endocrinology/references.htm

Browse Advanced Section on Endocrinology References from Summer/Fall Newsletter GROWTH HORMONE SHOULD NOT BE ADMINISTERED ROUTINELY TO CHILDREN WITH SHORT STATURE DUE TO INTRAUTERINE GROWTH RETARDATION WHO ARE NOT CLASSICALLY GROWTH HORMONE DEFICIENT Allen W. Root, MD Departments of Pediatrics, Biochemistry and Molecular Biology, University of South Florida College of Medicine, Tampa, FL All Children's Hospital, St. Petersburg, Florida References Botero D, Lifshitz F. Intrauterine growth retardation and long-term effects on growth. Curr Opin Pediatr 11:340-347,1999. Chatelain P, Peretti N, Lapillonne A, Nicolino M, Salle B, et al. New insights into the postnatal growth of infants born "idiopathic' small for gestational age. J Pediatr Endocrinol Metab 14:1515-1519,2001. Coutant R, Carel J-C, Letrait M, Bouvattier C, Chatelain P, Coste J, Chaussain J-L. Short stature associated with intrauterine growth retardation: Final height of untreated and growth hormone-treated children. J Clin Endocrinol Metab 83:1070-1074,1998. de Zegher F. Growth hormone treatment in intrauterine growth retardation. 84th Annual Meeting of the Endocrine Society, San Francisco, CA, June 19-22, 2002, Abst S8-1, p 26.

86. Medizinische Genetik silverrussell syndrome, ascertainment of total and segmental uniparental disomySupported by Novartis. Molecular genetic and clinical investigations of http://www.medgen.unizh.ch/Pages/Forschung.html

Angelman Syndrom Beckwith-Wiedemann Syndrom CATCH-22 Chromosomenuntersuchung Cystische Fibrose FISH-Schnelltest Fragiles X Syndrom Klinefelter Syndrom Myotone Dystrophie Steinert Prader-Willi Syndrom Rett Syndrom Silver-Russel Syndrom (UPD7) Subtelomer-FISH Turner Syndrom Williams Syndrom - Zytogenetik - Molekulargenetik Albright Syndrom Angelman Syndrom Bardet-Biedl Syndrom Beckwith-Wiedemann Syndrom Cystische Fibrose Chorea Huntington DiGeorge Syndrom Down Syndrom Fragiles X Syndrom Mikrodeletion 22q11 Miller-Dieker Syndrom Myotone Dystrophie Steinert Neuralrohrdefekte Neurofibromatose Prader-Willi Syndrom Rett Syndrom Shprintzen Syndrom Smith-Lemli-Opitz Syndrom Sotos Syndrom Spinale Muskelatrophie Smith-Magenis Syndrom Uniparentale Disomie Velo-cardio-faciales Syndrom Williams Syndrom RESEARCH PROJECTS DIVISION OF MEDICAL MOLECULAR GENETICS AND GENE DIAGNOSTICS Eye diseases ICF and Braegger Syndrome Lymphedema Marfan Syndrome ... Collaborations PROJECTS CONDUCTED BY PROFESSOR A. SCHINZEL AND DR. A. BAUMER Prader-Willi syndrome and Angelman syndrome: ascertainment of deletions, uniparental disomy, imprinting defects, UBE3A mutations

87. Medizinische Genetik Martinez MJ, Binkert F, Schinzel A, Kotzot D. No Evidence of dup(7)(p11.2p13) insilverrussell syndrome Am J Med Genet 2001 99; 335-337 http://www.medgen.unizh.ch/Pages/Pub01.html

Angelman Syndrom Beckwith-Wiedemann Syndrom CATCH-22 Chromosomenuntersuchung Cystische Fibrose FISH-Schnelltest Fragiles X Syndrom Klinefelter Syndrom Myotone Dystrophie Steinert Prader-Willi Syndrom Rett Syndrom Silver-Russel Syndrom (UPD7) Subtelomer-FISH Turner Syndrom Williams Syndrom - Zytogenetik - Molekulargenetik Albright Syndrom Angelman Syndrom Bardet-Biedl Syndrom Beckwith-Wiedemann Syndrom Cystische Fibrose Chorea Huntington DiGeorge Syndrom Down Syndrom Fragiles X Syndrom Mikrodeletion 22q11 Miller-Dieker Syndrom Myotone Dystrophie Steinert Neuralrohrdefekte Neurofibromatose Prader-Willi Syndrom Rett Syndrom Shprintzen Syndrom Smith-Lemli-Opitz Syndrom Sotos Syndrom Spinale Muskelatrophie Smith-Magenis Syndrom Uniparentale Disomie Velo-cardio-faciales Syndrom Williams Syndrom Martinez M-J, Binkert F, Schinzel A, Kotzot D. No Evidence of dup(7)(p11.2p13) in Silver-Russell Syndrome Am J Med Genet 2001 99; 335-337 Schinzel A, Niedrist D. Chromosome Imbalances Associated With Epilepsy Am J Med Genet (Semin. Med. Genet.) 2001 106; 119-124 Weymann S, Yonekawa Y, Khan N, Martin E, Heppner F L, Schinzel A, Kotzot D.

88. Full Listing SHWACHMAN SYNDROME, SIALIC ACID STORAGE DISEASE, SIALIDOSIS, SICKLE CELL,silverrussell syndrome, SINGLE PARENTS, SKELETAL DYSPLASIA, SKIN DISORDERS, http://www.doctor.gp/help/full_listing.htm

DIRECTORY OF BRITISH SELF HELP GROUPS AND SUPPORT ORGANISATIONS by Steve and Julie Garrill Home

89. Russell-Silver Syndrome frequently, asymmetry in the size of the two halves or other parts of the body.Alternative Names. silverrussell syndrome; Silver syndrome http://www.healthscout.com/ency/1/001209.html

Search HealthScout Web MEDLINE Special Offers TV Specials Chronic Pain Erectile Dysfunction GERD Diabetes ... High Tech Health Top Features Bipolar Disorder Resources Sleep Skin Cancer Migraines ... Diabetes Health Organizer Resources Healthscout News 3D Health Animations Health Videos Health Encyclopedia ... Drug Library Drug Information Drug Search Drug Interactions Image Database Pill Identifier Channels Home Today Women Men ... Drug Checker Medical Health Encyclopedia Russell-Silver syndrome Injury Disease Nutrition Poison ... Prevention Russell-Silver syndrome Definition: Rusell-Silver syndrome is a congenital disease (present at birth) characterized by short stature and, frequently, asymmetry in the size of the two halves or other parts of the body. Alternative Names: Silver-Russell syndrome; Silver syndrome Causes, incidence, and risk factors: Genetic problems are thought to cause this syndrome, although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined, but in most cases it seems to occur without any family history of the condition. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common. For example, a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face.

90. Identification Of The Meg1/Grb10 Imprinted Gene On Mouse Proximal Chromosome 11, silverrussell syndrome a dissection of the genetic aetiology and candidatechromosomal regions silver-russell syndrome and ring chromosome 7 http://www.pnas.org/cgi/content/abstract/95/3/1102

This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: ISI Web of Science (76) PubMed PubMed Citation Articles by Miyoshi, N. Articles by Ishino, F. Vol. 95, Issue 3, 1102-1107, February 3, 1998 Developmental Biology / Genetics Identification of the imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene androgenetic embryos prenatal growth deficiency growth factor receptor-bound protein insulin and insulin-like growth factors signal transduction pathways Naoki Miyoshi Yoshimi Kuroiwa Takashi Kohda Hiroshi Shitara Hiromichi Yonekawa Tohru Kawabe Hideaki Hasegawa Sheilla C. Barton M. Azim Surani Tomoko Kaneko-Ishino and Fumitoshi Ishino Gene Research Center, Tokyo Institute of Technology

91. 2003 [UK-Aachen] Translate this page Genetic disturbances in silver-russell syndrome and significance for molecular Genetic findings in silver-russell syndrome up-date and applications for http://www.ukaachen.de/content/listpage/3951306

92. Silver-Russell, Syndrome De Translate this page Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/FR/silverrussell.html

Accès à la base de données Orphanet Silver-Russell, syndrome de Accès direct aux détails Résumé Texte(s) long(s) http://www.orpha.net/data/patho/FR/fr-silver.pdf Signes de la maladie CLINODACTYLIE DU 5EME DOIGT COINS DE LA BOUCHE TOMBANTS FACE TRIANGULAIRE PETITE TAILLE / NANISME RETARD DE CROISSANCE INTRA-UTERIN AGE OSSEUX RETARD ASYMETRIE CORPORELLE / HEMITROPHIE DIFFICULTE D'ELEVAGE FRONT BOMBE/BOSSES FRONTALES LEVRES MINCES/RETRACTEES ANOMALIE APPAREIL URINAIRE ANOMALIE DU COEUR FENTE PALATINE LUXATION DE HANCHE OREILLES BAS IMPLANTEES Mise à jour : 04/09/2005 Accès à la base de données Orphanet

93. ► Russell-Silver Syndrome A medical encycopedia article on the topic Russell-Silver syndrome. Alternative Names. Silver Russell syndrome; Silver syndrome http://www.umm.edu/ency/article/001209.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Encyclopedia (English) Toggle English Spanish Russell-Silver syndrome Overview Symptoms Treatment Prevention Definition: A condition of unknown origin, but which is characterized by short stature and frequent asymmetry in the size of 2 halves or parts of the body. Alternative Names: Silver Russell syndrome; Silver syndrome Causes, incidence, and risk factors: Genetic problems are thought to cause this syndrome although the specific gene(s) remain to be discovered. The pattern of inheritance has not been determined but in most cases it seems sporadic, that is to say, there is no family history in preceding generations/siblings. Children with Russell-Silver syndrome are born small and generally achieve less than 5 feet at adult height. Side-to-side asymmetry is fairly common, for example a left body part may be larger than the right counterpart. This asymmetry may occur anywhere including the face. Other findings include excessive sweating , a small triangular face which makes the skull look large by comparison, inward curving 5th fingers, and pigmented skin lesions called cafe-au-lait spots Review Date: 9/10/2001 Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

94. Evidence Against A Major Role Of PEG1/MEST In SilverRussell Syndrome The European Journal of Human Genetics is the official Journal of the EuropeanSociety of Human Genetics, publishing highquality, original research papers, http://www.nature.com/ejhg/journal/v6/n2/abs/5200164a.html

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics March 1998, Volume 6, Number 2, Pages 114-120 Table of contents Previous Abstract Next PDF Original paper Evidence against a major role of PEG1/MEST in Silver Russell syndrome Anne M Riesewijk , Nadya Blagitko , Albert A Schinzel , Landian Hu , Ute Schulz , Ben CJ Hamel , Hans-Hilger Ropers and Vera M Kalscheuer 2,a Department of Human Genetics, University Hospital Nijmegen, The Netherlands Max-Planck-Institute for Molecular Genetics, Berlin, Germany a Abstract Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by interauterine and postnatal growth retardation, with or without additional dysmorphic features. Most cases are sporadic but a few familial cases have been described. A subset of patients exhibit maternal uniparental disomy for chromosome 7 (mUPD7) strongly suggesting that genomic imprinting plays a role in the aetiology of the disease. We and others have recently characterised the human PEG1/MEST gene, the first imprinted gene known to be located on chromosome 7. Although the function of

95. Syndrome De Silver Russell Translate this page Le syndrome de Silver Russel description et prise en charge. Service de PédiatrieCliniques St Luc Bruxelles. http://www.pediatrie.be/Silver_ Russel.htm

retour pediatrie.be Syndrome de Silver Russell Dr. D. Hermans , L.Beauport A . Définition et Incidence Le syndrome de Silver Russell associe un retard de croissance intra-utérin sans croissance de rattrapage postnatale, avec plusieurs caractéristiques morphologiques et une asymétrie des membres. On ne connaît pas précisément l’incidence de ce syndrome mais elle se situe entre 1/50.000 à 1/100.000 naissances vivantes et plus de 500 cas sont rapportés dans la littérature (1). B. Symptomatologie De nombreuses caractéristiques ont été décrites dans le syndrome de Silver Russell et expliquent la grande diversité phénotypique qui le caractérise (2,3). Les signes suivants se retrouvent dans la majorité des enfants présentant cette maladie: Petit poids à la naissance avec absence de rattrapage de croissance pendant les deux premières années de la vie Un rapport poids/taille insuffisant mais avec un périmètre crânien généralement normal pour l’âge Une insuffisance ou une absence total d’appétit lié à un fonctionnement anormal des récepteurs à la sérotonine au niveau du système nerveux central Asymétrie corporelle Visage triangulaire front large et bombé , pseudohydrocéphalie, hypoplasie du menton et du milieu de la face, coins de la bouche tournés vers le bas et lèvre supérieure mince, palais ogival, microdontie, oreilles bas implantées et en rotation postérieure ou oreilles saillantes (cfr photos

96. MedlinePlus Medical Encyclopedia: Topics Beginning With Si-Sp Silicosis acute; Silver syndrome see Russell-Silver syndrome; Silver-Russellsyndrome see Russell-Silver syndrome Simian crease; Simple carbohydrates http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_Si-Sp.htm

@import url(/medlineplus/images/advanced.css); Skip navigation Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Medical Encyclopedia Topics beginning with "Si-Sp" SIADH see Dilutional hyponatremia (SIADH) Sialadenitis see Salivary gland infections Sialogram Sialography see Sialogram Sialolithiasis see Salivary duct stones Sibilant rhonchi see Wheezing Sick sinus syndrome Sickle cell anemia Sickle cell anemia - resources Sickle cell disease see Sickle cell anemia Sickle cell test Sickledex see Sickle cell test Sickness and chicken soup see Chicken soup and sickness Side pain see Flank pain Sideropenic dysphagia see Plummer-Vinson syndrome/esophageal web SIDS see Sudden infant death syndrome SIDS - resources Sigmoidoscopy Silent ear infection see Otitis media with effusion Silent otitis media see Otitis media with effusion Silicoproteinosis see Silicosis - acute Silicosis Silicosis - acute Silver syndrome see Russell-Silver syndrome Silver-Russell syndrome see Russell-Silver syndrome Simian crease Simple carbohydrates see Carbohydrates Simple pulmonary eosinophilia (Loeffler's syndrome) Simple seizure see Partial (focal) seizure Simple sugars see Carbohydrates Sinequan see Doxepin overdose Singapore hemorrhagic fever see Dengue hemorrhagic fever Single palmar crease see Simian crease Singultus see Hiccups Sinus infection see Sinusitis Sinus node dysfunction see Sick sinus syndrome Sinuses X-ray Sinusitis Sinusitis - acute see Sinusitis Sinusitis - chronic Siphonaptera see Fleas Sipple's syndrome see Multiple Endocrine Neoplasia (MEN) II Sitz bath Sjogren syndrome Skeletal limb abnormalities Skeletal survey see

97. Russell (Silver) Syndrome RussellSilver syndrome Support Group Support Group Silver-Russellsyndrome, ascertainment of uniparental disomy; Also see Uniparental Disomy http://www.bdid.com/russellsilver.htm

HOME Russell (Silver) Syndrome Russell-Silver Syndrome Description Russell-Silver Syndrome Support Group ... Silver-Russell syndrome, ascertainment of uniparental disomy Also see Uniparental Disomy HOME

98. ¡i¨u¨£¿ò¶Ç¯e¯f¤@ÂI³q¡j - ¥Í¤Æ¿ò¶ÇÀËÅç«Ç The summary for this Chinese (Traditional) page contains characters that cannot be correctly displayed in this language/character set. http://ntuh.mc.ntu.edu.tw/gene/genehelp/database/case/record_4.htm

ªù¶E¿Ô¸ß®×¨Ò¬ö¿ý Silver-Russell syndrome ¯e ¯f ² ¤¶ ¡G³¢´f¬ (¥x¤j¤ÀÂå©Ò¿ò¶Ç¿Ô¸ß²Õ¬ã¨s¥Í) «e¨¥ ¯e¯f²¤¶ SilverÂå®v©ó1953¦~¡ARussellÂå®v©ó1954¦~¤À§O³ø§i¤F¤@¸s¤l®c¤º¥Íªø¿ðº¢( IUGR, intrauterine growth retardation ) ªº¨àµ£¡A³o¨Ç±w¨à¦P®É¨ã¦³¨­§÷¸G¤p¡BÁy¤p§e¤T¨¤§Î¡B§C¦ì¦Õ¡B²Ä¤­¤â«üÅs¦±µ¥¯S¼x¡A ¦¹¯g©ó¬O©R¦W¬°Silver -Russell syndrome¡C Priceµ¥¤H©ó1999¦~«Øij±N¥H¤U´XÂI¦C¬°¶EÂ_¦¹¯gªº¼Ð·Ç: ¥X¥Í®ÉÅé­«¤ñ¥­§¡­È§C2­Ó¼Ð·Ç®t ¥X¥Í«á¥ÍªøªºÅé­«¤Î¨­°ª¤ñ¥­§¡­È§C2­Ó¼Ð·Ç®t ¦¨¤ñ¨Òªº¨­§÷¸G¤p¡A°©ÄÖµo®i¿ð½w ( pseudohydrocephalus ) ¨å«¬ªºÁy³¡¯S¼x¦p¼eÅ㪺«eB¡B¤p¥B¤T¨¤§ÎÁy¡B¤U¤Ú¤p¯¶ ¨ä¥L¦³§U©ó¶EÂ_ªº¯S¼x¡A¦p²Ä¤­¤â«üÅs±×¡B¨Ö«ü¡B©@°Ø¤û¥¤´³¡B¤G¤âÁuªø«×¸û¨­°ªµu ªº±wªÌ¬O¦]¬°²Ä7¹ï¬V¦âÅé¥À·½³æ¿Ë¤GÅé¯g (maternal uniparental disomy) ¡A¤Ö©ó1%ªº±wªÌ¦b¬V¦âÅé 7p11.2 - p12°Ï°ì¶¡¤@­ÓGRB10 (human growth factor receptor-bound protein 10)ªº°ò¦]¦³ö¡C ¥D­n¦³¤U¦C¤TºØ¿ò¶Ç¼Ò¦¡¡G ¨â­Ó²Ä¤C¹ï¬V¦âÅ駡¨Ó¦Û©ó¥À¿Ë¡A§Y©Ò¿×ªº¥À·½³æ¿Ë¤GÅé¯g(maternal uniparental disomy¡A ²ºÙUPD)¡A¤j¬ù10%ªº®×¨ÒÄÝ©ó³oºØ¿ò¶Ç¼Ò¦¡¡C¦ýµ´¤j¦h¼Æ§¡¬°°¸µo©Ê¡A´X¥G©Ò¦³®×¨Ò§¡ ¬O®a±Ú¤¤°ß¤@ªº­Ó®×¡C ¦¹­P¯f°ò¦]¡A«h¤l¥N¤£¤À©Ê§O¦³ ¥i¥H¥Í ¥X¥¿±`ªº¤p«Ä¡A¦Ó¦³ ®É¥²¶·¥]¬A¤÷¥À¤Î¥S§Ì©n©f¥X¥Í®Éªº¨­°ªÅé­«¡A­Y®a±Ú¤¤§¡µL¨ä¥L¤H±w¯f¡A«h§¡ÄÝ°¸µo©Ê¡C ªù¶E®×¨Ò°ò¥»¸ê®Æ ©m¦W¡G¹ù¤p©ú ©Ê§O¡G¨k ¦~ÄÖ¡G8m ¨­°ª¡G 41 cm (10%) ®a±ÚÐ (¬°´L­«­Ó®×Áô¨pÅv¡A­Ó®×©m¦W¬Ò¥H¤Æ¦W³B²z¡A¨ä®a±ÚлP¬G¨Æ¤º®e¤w§@§ó§ï ) (150ml milk/¦¸)

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