Prader-Willi Alliance of New York, Inc.

Publications on Prader-Willi Syndrome

March 5, 2008
 

 

Dimitropoulos A, Schultz RT.

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Food-related Neural Circuitry in Prader-Willi Syndrome: Response to High- Versus Low-calorie Foods.
J Autism Dev Disord. 2008 Feb 29; [Epub ahead of print]
PMID: 18311513 [PubMed - as supplied by publisher]

March 3, 2008
 

 

de Lind van Wijngaarde RF, Otten BJ, Festen DA, Joosten KF, de Jong FH, Sweep FC, Hokken-Koelega AC.

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High prevalence of central adrenal insufficiency in patients with Prader-Willi syndrome.
J Clin Endocrinol Metab. 2008 Feb 26; [Epub ahead of print]
PMID: 18303077 [PubMed - as supplied by publisher]

 

 

Crinò A, Di Giorgio G, Schiaffini R, Fierabracci A, Spera S, Maggioni A, Gattinara GC.

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Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome.
Eur J Pediatr. 2008 Feb 27; [Epub ahead of print]
PMID: 18301920 [PubMed - as supplied by publisher]

February 28, 2008
 

 

Dudley O, McManus B, Vogels A, Whittington J, Muscatelli F.

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Cross-cultural comparisons of obesity and growth in Prader-Willi syndrome.
J Intellect Disabil Res. 2008 Feb 20; [Epub ahead of print]
PMID: 18298478 [PubMed - as supplied by publisher]

February 26, 2008
 

 

Bittel DC, Kibiryeva N, Butler MG.

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Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities.
Genet Test. 2007 Winter;11(4):467-76.
PMID: 18294067 [PubMed - in process]

 

Makoff AJ, Flomen RH.

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Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.
Genome Biol. 2007;8(6):R114.
PMID: 17573966 [PubMed - indexed for MEDLINE]

February 23, 2008
 

 

Puvabanditsin S, Garrow E, Razi S, Mohar AG, Tadros JJ, Phattraprayoon N, Patel P.

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A Y/15 translocation in a 45,X male with Prader-Willi syndrome.
Genet Couns. 2007;18(4):417-21.
PMID: 18286823 [PubMed - in process]

February 21, 2008
 

 

Singh NN, Lancioni GE, Singh AN, Winton AS, Singh J, McAleavey KM, Adkins AD.

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A Mindfulness-Based Health Wellness Program for an Adolescent With Prader-Willi Syndrome.
Behav Modif. 2008 Mar;32(2):167-181.
PMID: 18285504 [PubMed - as supplied by publisher]

February 20, 2008
 

 

Gabbett MT, Peters GB, Carmichael JM, Darmanian A, Collins FA.

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Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.
Clin Genet. 2008 Feb 13; [Epub ahead of print]
PMID: 18279435 [PubMed - as supplied by publisher]

 

Accadbled F, Odent T, Moine A, Chau E, Glorion C, Diene G, de Gauzy JS.

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Complications of Scoliosis Surgery in Prader-Willi Syndrome.
Spine. 2008 Feb 15;33(4):394-401.
PMID: 18277871 [PubMed - as supplied by publisher]

February 17, 2008
 

 

Zanella S, Watrin F, Mebarek S, Marly F, Roussel M, Gire C, Diene G, Tauber M, Muscatelli F, Hilaire G.

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Necdin Plays a Role in the Serotonergic Modulation of the Mouse Respiratory Network: Implication for Prader-Willi Syndrome.
J Neurosci. 2008 Feb 13;28(7):1745-1755.
PMID: 18272695 [PubMed - as supplied by publisher]

 

Royo H, Cavaillé J.

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Non-coding RNAs in imprinted gene clusters.
Biol Cell. 2008 Mar;100(3):149-66.
PMID: 18271756 [PubMed - in process]

February 13, 2008

de Lind van Wijngaarden RF, de Klerk LW, Festen DA, Hokken-Koelega AC.
Scoliosis in Prader-Willi syndrome: Prevalence, effects of age, gender, body mass index, lean body mass and genotype.
Arch Dis Child. 2008 Feb 8; [Epub ahead of print]
PMID: 18263693 [PubMed - as supplied by publisher]

Ogura K, Shinohara M, Ohno K, Mori E.
Frontal behavioral syndromes in Prader-Willi syndrome.
Brain Dev. 2008 Feb 7; [Epub ahead of print]
PMID: 18262375 [PubMed - as supplied by publisher]

Butler MG, Fischer W, Kibiryeva N, Bittel DC.
Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome.
Am J Med Genet A. 2008 Feb 11; [Epub ahead of print]
PMID: 18266248 [PubMed - as supplied by publisher]

February 8, 2008

Tauber M, Cutfield W.
KIGS highlights: growth hormone treatment in Prader-Willi Syndrome.
Horm Res. 2007;68 Suppl 5:48-50. Epub 2007 Dec 10. No abstract available.
PMID: 18174707 [PubMed - in process]

Darendeliler F, Karagiannis G, Wilton P.
Headache, idiopathic intracranial hypertension and slipped capital femoral epiphysis during growth hormone treatment: a safety update from the KIGS database.
Horm Res. 2007;68 Suppl 5:41-7. Epub 2007 Dec 10.
PMID: 18174706 [PubMed - in process]


February 5, 2008

Brandau DT, Theodoro M, Garg U, Butler MG.
Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome.
Am J Med Genet A. 2008 Feb 1; [Epub ahead of print] No abstract available.
PMID: 18241068 [PubMed - as supplied by publisher]

January 31, 2008

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork C, Shaffer LG, Beaudet AL.
Articles Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region. BMC Genomics. 2008 Jan 28;9(1):50 [Epub ahead of print] PMID: 18226259 [PubMed - as supplied by publisher]

January 27, 2008

  Gaultier C, Gallego J. Related Articles
  Neural Control of Breathing: Insights from Genetic Mouse Models.
J Appl Physiol. 2008 Jan 24; [Epub ahead of print]
PMID: 18218910 [PubMed - as supplied by publisher]

January 25, 2008

 

Mogul HR, Lee PD, Whitman BY, Zipf WB, Frey M, Myers S, Cahan M, Pinyerd B, Southren AL.

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Growth Hormone Treatment of Adults with Prader Willi Syndrome and Growth Hormone Deficiency Improves Lean Body Mass, Fractional Body Fat, and Serum Triiodothyronine Without Glucose Impairment: Results From The US Multi-Center Trial.
J Clin Endocrinol Metab. 2008 Jan 22; [Epub ahead of print]
PMID: 18211968 [PubMed - as supplied by publisher]

 

Ohno K.

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[RNA pathologies in neurological disorders]
Rinsho Shinkeigaku. 2007 Nov;47(11):801-4. Japanese.
PMID: 18210802 [PubMed - in process]

January 23, 2008

 

Davies W, Lynn PM, Relkovic D, Wilkinson LS.

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Imprinted genes and neuroendocrine function.
Front Neuroendocrinol. 2007 Dec 10; [Epub ahead of print]
PMID: 18206218 [PubMed - as supplied by publisher]

 

Weise A, Gross M, Mrasek K, Mkrtchyan H, Horsthemke B, Jonsrud C, Von Eggeling F, Hinreiner S, Witthuhn V, Claussen U, Liehr T.

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Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level.
Int J Mol Med. 2008 Feb;21(2):189-200.
PMID: 18204785 [PubMed - as supplied by publisher]

 

Jacob SS, Jacob JJ, Paul TV.

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Foreign body aspiration in a boy with Prader-Willi Syndrome.
Singapore Med J. 2008 Jan;49(1):e12-e14.
PMID: 18204752 [PubMed - as supplied by publisher]

 

Horsthemke B.

Related Articles, LinkOut

 

Rhythm is not enough.
Nat Genet. 2007 Oct;39(10):1190-1. No abstract available.
PMID: 17898776 [PubMed - indexed for MEDLINE]

 

January 20, 2008

January 18, 2008

 

Yee BJ, Buchanan PR, Mahadev S, Banerjee D, Liu PY, Phillips C, Loughnan G, Steinbeck K, Grunstein RR.

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Assessment of sleep and breathing in adults with prader-willi syndrome: a case control series.
J Clin Sleep Med. 2007 Dec 15;3(7):713-8.
PMID: 18198805 [PubMed - in process]

January 12, 2008

 

Giurgiutiu DV, Espinoza LM, Wood TC, Dupont BR, Holden KR.

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Persistent Growth Failure in Prader-Willi Syndrome Associated With Short-Chain Acyl-CoA Dehydrogenase Gene Variant.
J Child Neurol. 2008 Jan;23(1):112-7.
PMID: 18184946 [PubMed - in process]

January 9, 2008

 

Soni S, Whittington J, Holland AJ, Webb T, Maina EN, Boer H, Clarke D.

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The phenomenology and diagnosis of psychiatric illness in people with Prader-Willi syndrome.
Psychol Med. 2008 Jan 4;:1-10 [Epub ahead of print]
PMID: 18177526 [PubMed - as supplied by publisher]

 

Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, Lasalle JM, Schanen NC.

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Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15.
BMC Genet. 2008 Jan 4;9(1):2 [Epub ahead of print]
PMID: 18177502 [PubMed - as supplied by publisher]

January 4, 2008

 

Ganjavi H, Shapiro CM.

 

 

Hypocretin/Orexin: a molecular link between sleep, energy regulation, and pleasure.
J Neuropsychiatry Clin Neurosci. 2007 Fall;19(4):413-9. Review.
PMID: 18070844 [PubMed - indexed for MEDLINE]

 

Chong S, Youngson NA, Whitelaw E.

 

 

Heritable germline epimutation is not the same as transgenerational epigenetic inheritance.
Nat Genet. 2007 May;39(5):574-5; author reply 575-6. No abstract available.
PMID: 17460682 [PubMed - indexed for MEDLINE]

January 3, 2008

 

Skryabin BV, Gubar LV, Seeger B, Pfeiffer J, Handel S, Robeck T, Karpova E, Rozhdestvensky TS, Brosius J.

 

 

Deletion of the MBII-85 snoRNA Gene Cluster in Mice Results in Postnatal Growth Retardation.
PLoS Genet. 2007 Dec 28;3(12):e235.
PMID: 18166085 [PubMed - as supplied by publisher]

December 30, 2007

  Scheimann AO, Butler MG, Gourash L, Cuffari C, Klish W.  
  Critical analysis of bariatric procedures in Prader-Willi syndrome.
J Pediatr Gastroenterol Nutr. 2008 Jan;46(1):80-3.
PMID: 18162838 [PubMed - in process]

December 21, 2007

 

Stafler P, Wallis C.

 

 

Prader Willi Syndrome: Who can have Growth Hormone?
Arch Dis Child. 2007 Dec 18; [Epub ahead of print]
PMID: 18089632 [PubMed - as supplied by publisher]

December 19, 2007

 

Bailleul-Forestier I, Verhaeghe V, Fryns JP, Vinckier F, Declerck D, Vogels A.

 

 

The oro-dental phenotype in Prader-Willi syndrome: a survey of 15 patients.
Int J Paediatr Dent. 2008 Jan;18(1):40-7.
PMID: 18086025 [PubMed - in process]

 

Zanella S, Barthelemy M, Muscatelli F, Hilaire G.

 

 

Necdin gene, respiratory disturbances and Prader-Willi syndrome.
Adv Exp Med Biol. 2008;605:159-64.
PMID: 18085265 [PubMed - in process]

 

Pagliardini S, Rent J, Wevrick R, Greer JJ.

 

 

Neurodevelopmental abnormalities in the brainstem of prenatal mice lacking the Prader-Willi syndrome gene Necdin.
Adv Exp Med Biol. 2008;605:139-43. No abstract available.
PMID: 18085261 [PubMed - in process]

 

Dahl C, Guldberg P.

 

 

High-resolution melting for accurate assessment of DNA methylation.
Clin Chem. 2007 Nov;53(11):1877-8. No abstract available.
PMID: 17954495 [PubMed - indexed for MEDLINE]

December 12, 2007

 

Cohen D, Martel C, Wilson A, Déchambre N, Amy C, Duverger L, Guile JM, Pipiras E, Benzacken B, Cavé H, Cohen L, Héron D, Plaza M.

 

 

Brief report: visual-spatial deficit in a 16-year-old girl with maternally derived duplication of proximal 15q.
J Autism Dev Disord. 2007 Sep;37(8):1585-91. Epub 2006 Sep 28. Erratum in: J Autism Dev Disord. 2007 Sep;37(8):1592.
PMID: 17006777 [PubMed - indexed for MEDLINE]

December 8, 2007

 

Bacheré N, Diene G, Delagnes V, Molinas C, Moulin P, Tauber M.

 

 

Early Diagnosis and Multidisciplinary Care Reduce the Hospitalization Time and Duration of Tube Feeding and Prevent Early Obesity in PWS Infants.
Horm Res. 2007 Dec 4;69(1):45-52 [Epub ahead of print]
PMID: 18059083 [PubMed - as supplied by publisher]

 

Kotzot D.

 

 

Prenatal testing for uniparental disomy: indications and clinical relevance.
Ultrasound Obstet Gynecol. 2007 Dec 5; [Epub ahead of print]
PMID: 18059071 [PubMed - as supplied by publisher]

 

Beretta L, Hauschild M, Jeannet PY, Addor MC, Maeder P, Truttmann AC.

 

 

Atypical presentation of prader-willi syndrome with cerebral venous thrombosis: association or fortuity?
Neuropediatrics. 2007 Aug;38(4):204-6.
PMID: 18058630 [PubMed - in process]

December 6, 2007

 

Teller K, Solovei I, Buiting K, Horsthemke B, Cremer T.

 

Maintenance of imprinting and nuclear architecture in cycling cells.
Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):14970-5. Epub 2007 Sep 11.
PMID: 17848516 [PubMed - indexed for MEDLINE]

November 28, 2007

 

Rauch J, Knoch TA, Solovei I, Teller K, Stein S, Buiting K, Horsthemke B, Langowski J, Cremer T, Hausmann M, Cremer C.

 

 

Light optical precision measurements of the active and inactive Prader-Willi syndrome imprinted regions in human cell nuclei.
Differentiation. 2007 Nov 26; [Epub ahead of print]
PMID: 18039333 [PubMed - as supplied by publisher]

November 24, 2007

 

Festen DA, Wevers M, Lindgren AC, Bohm B, Otten BJ, Wit JM, Duivenvoorden HJ, Hokken-Koelega AC.

 

 

Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome.
Clin Endocrinol (Oxf). 2007 Nov 19; [Epub ahead of print]
PMID: 18031326 [PubMed - as supplied by publisher]

November 15, 2007

 

Dahl C, Guldberg P.

 

 

A ligation assay for multiplex analysis of CpG methylation using bisulfite-treated DNA.
Nucleic Acids Res. 2007 Nov 12; [Epub ahead of print]
PMID: 17998253 [PubMed - as supplied by publisher]

 

Hardin DS, Kemp SF, Allen DB.

 

 

Twenty years of recombinant human growth hormone in children: relevance to pediatric care providers.
Clin Pediatr (Phila). 2007 May;46(4):279-86. Review.
PMID: 17475983 [PubMed - indexed for MEDLINE]

November 14, 2007

 

Savopoulos C, Hatzitolios A, Panagopoulou P, Kosmidou M, Tsirogianni E, Konstantinou V.

 

 

Hypothyroidism in Prader-Willi syndrome: A case report and review of the literature.
J Endocrinol Invest. 2007 Oct;30(9):804-805. No abstract available.
PMID: 17993776 [PubMed - as supplied by publisher]

 

Wagner MH, Berry RB.

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An obese female with Prader-Willi syndrome and daytime sleepiness.
J Clin Sleep Med. 2007 Oct 15;3(6):645-7. No abstract available.
PMID: 17993048 [PubMed - in process]

November 8, 2007

 

Hore TA, Rapkins RW, Graves JA.

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Construction and evolution of imprinted loci in mammals.
Trends Genet. 2007 Sep;23(9):440-8. Epub 2007 Aug 1. Review.
PMID: 17683825 [PubMed - indexed for MEDLINE]

November 7, 2007

 

Maggio MC, Corsello M, Piccione M, Piro E, Giuffre M, Liotta A.

 

 

Neonatal presentation of Prader Willi sindrome. Personal records.
Minerva Pediatr. 2007 Dec;59(6):817-23.
PMID: 17978792 [PubMed - in process]

 

Simanovsky N, Hiller N, Simanovsky N.

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Partial duplication of the scapula.
Skeletal Radiol. 2006 Sep;35(9):696-8. Epub 2005 Oct 13.
PMID: 16222520 [PubMed - indexed for MEDLINE]

 

Nonogaki K.

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Ghrelin and feedback systems.
Vitam Horm. 2007;77:149-70.
PMID: 17983856 [PubMed - in process]

October 30, 2007

 

Nagarajan RP, Hogart AR, Gwye Y, Martin MR, Lasalle JM.

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Reduced MeCP2 Expression is Frequent in Autism Frontal Cortex and Correlates with Aberrant MECP2 Promoter Methylation.
Epigenetics. 2006 Oct 11;1(4) [Epub ahead of print]
PMID: 17965613 [PubMed - as supplied by publisher]

 

Van Borsel J, Tetnowski JA.

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Fluency disorders in genetic syndromes.
J Fluency Disord. 2007;32(4):279-96. Epub 2007 Jul 19.
PMID: 17963937 [PubMed - in process]

October 25, 2007

 

Li H, Meng S, Chen Z, Li H, Du M, Ma H, Wei H, Duan H, Zheng H, Wenren Q, Song X.

 

Molecular genetic diagnostics of prader-willi syndrome: a validation of linkage analysis for the chinese population.
J Genet Genomics. 2007 Oct;34(10):885-91.
PMID: 17945167 [PubMed - in process]

October 18, 2007

 

Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP.

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Genotype/phenotype correlations in two patients with 12q subtelomere deletions.
Am J Med Genet A. 2007 Oct 15; [Epub ahead of print]
PMID: 17937441 [PubMed - as supplied by publisher]

October 17, 2007

 

Carvalho DF, Cercato C, Almeida MQ, Mancini MC, Halpern A.

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[Therapeutical approach of obesity in Prader-Willi Syndrome.]
Arq Bras Endocrinol Metabol. 2007 Aug;51(6):913-9. Portuguese.
PMID: 17934657 [PubMed - in process]

 

Eiholzer U, Grieser J, Schlumpf M, l'Allemand D.

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Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome.
Horm Res. 2007;68(4):178-84. Epub 2007 Mar 19.
PMID: 17374959 [PubMed - indexed for MEDLINE]

October 13, 2007

 

Bowers CW, Singer-Sam J.

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Unique Retrotransposon LINE-1 Distribution at the Prader-Willi Angelman Syndrome Locus.
J Mol Evol. 2007 Oct 12; [Epub ahead of print]
PMID: 17932619 [PubMed - as supplied by publisher]

October 9, 2007

 

Whittington JE, Butler JV, Holland AJ.

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Pre-, peri- and postnatal complications in Prader-Willi syndrome in a UK sample.
Early Hum Dev. 2007 Oct 3; [Epub ahead of print]
PMID: 17919850 [PubMed - as supplied by publisher]

October 2, 2007

 

Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE.

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Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion.
Pediatr Neurol. 2007 Oct;37(4):299-302.
PMID: 17903679 [PubMed - in process]

September 28, 2007

  Horsthemke B. Related Articles
  Rhythm is not enough.
Nat Genet. 2007 Oct;39(10):1190-1.
PMID: 17898776 [PubMed - in process]

September 26, 2007

 

Kozlov SV, Bogenpohl JW, Howell MP, Wevrick R, Panda S, Hogenesch JB, Muglia LJ, Van Gelder RN, Herzog ED, Stewart CL.

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The imprinted gene Magel2 regulates normal circadian output.
Nat Genet. 2007 Sep 23; [Epub ahead of print]
PMID: 17893678 [PubMed - as supplied by publisher]

September 25, 2007

 

White HE, Hall VJ, Cross NC.

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Methylation-Sensitive High-Resolution Melting-Curve Analysis of the SNRPN Gene as a Diagnostic Screen for Prader-Willi and Angelman Syndromes.
Clin Chem. 2007 Sep 21; [Epub ahead of print]
PMID: 17890436 [PubMed - as supplied by publisher]

September 19, 2007

 

Carel JC, Coste J.

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[Long-term safety of recombinant growth hormone]
Arch Pediatr. 2007 Jun;14(6):615-7. Epub 2007 Apr 24. French. No abstract available.
PMID: 17459678 [PubMed - indexed for MEDLINE]

September 18, 2007

 

Promkan M, Teingtat S, Stheinkijkarnchai A, Wasant P, Patmasiriwat P.

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Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients.
Clin Chem Lab Med. 2007;45(8):972-80.
PMID: 17867985 [PubMed - in process]

 

Gastaud F, Bouvattier C, Duranteau L, Brauner R, Thibaud E, Kutten F, Bougneres P.

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Impaired sexual and reproductive outcomes in women with classical forms of congenital adrenal hyperplasia.
J Clin Endocrinol Metab. 2007 Apr;92(4):1391-6. Epub 2007 Feb 6.
PMID: 17284631 [PubMed - indexed for MEDLINE]

September 14, 2007

 

van Hooren RH, Borne BW, Curfs LM, Widdershoven GA.

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Ethics of prevention: An interactive computer-tailored program.
Scand J Public Health. 2007 May 4;:1-7 [Epub ahead of print]
PMID: 17852990 [PubMed - as supplied by publisher]

 

Saitoh S, Hosoki K, Takano K, Tonoki H.

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Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.
Clin Genet. 2007 Oct;72(4):378-80. No abstract available.
PMID: 17850637 [PubMed - in process]

September 12, 2007

 

Semenza C, Pignatti R, Bertella L, Ceriani F, Mori I, Molinari E, Giardino D, Malvestiti F, Grugni G.

 

 

Genetics and mathematics: Evidence from Prader-Willi syndrome.
Neuropsychologia. 2007 Aug 2; [Epub ahead of print]
PMID: 17845808 [PubMed - as supplied by publisher]

Septmeber 7, 2007

[ ]1:

Iughetti L, Bosio L, Corrias A, Gargantini L, Ragusa L, Livieri C, Predieri B, Bruzzi P, Caselli G, Grugni G.

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Abstract

Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome.
Eur J Pediatr. 2007 Sep 2; [Epub ahead of print]
PMID: 17805568 [PubMed - as supplied by publisher]

 

 

Caliandro P, Grugni G, Padua L, Kodra Y, Tonali P, Gargantini L, Ragusa L, Crino A, Taruscio D.