Journal list menu

• 
  Issue

  American Journal of Medical Genetics Part A: Volume 117A, Issue 2

  Pages: 105-201

  1 March 2003

Previous Issue|Next Issue

Export Citation(s)Download PDF(s)

Export Citations

Format

Plain Text

RIS (ProCite, Reference Manager)

EndNote

BibTex

Medlars

RefWorks

Type of import

Citation file or direct import

Indirect import or copy/paste

Cancel

Next

< Go back

Citation HelpExport

Download PDFs

Cancel

Item limit reached

Download (.zip)

Research Articles

Full Access

full

Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders

Kory Keller,  Charles Williams,  Paul Wharton,  Martha Paulk,  Angela Bent-Williams,  Brian Gray,  Angie Ward,  Heather Stalker,  Margaret Wallace,  Randy Carter,  Roberto Zori, 

• Pages: 105-111
• First Published: 25 November 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Previously undescribed nonsense mutation in SHH caused autosomal dominant holoprosencephaly with wide intrafamilial variability

Monica Marini,  Roberto Cusano,  Pierangela De Biasio,  Francesco Caroli,  Margherita Lerone,  Margherita Silengo,  Roberto Ravazzolo,  Marco Seri,  Gianni Camera, 

• Pages: 112-115
• First Published: 06 January 2003

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy

Cristiana Lo Nigro,  Roberto Cusano,  Gian Luigi Gigli,  Paola Forabosco,  Mariarosaria Valente,  Roberto Ravazzolo,  Marina Diomedi,  Marco Seri, 

• Pages: 116-121
• First Published: 13 January 2003

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: Confirmation and refinement of the DFNA25 locus

Erwin Petek,  Christian Windpassinger,  Monika Mach,  Ludwig Rauter,  Stephen W. Scherer,  Klaus Wagner,  Peter M. Kroisel, 

• Pages: 122-126
• First Published: 11 December 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Clinical and genetic aspects of trigonocephaly: A study of 25 cases

Cyrus Azimi,  Shelley J. Kennedy,  David Chitayat,  Pranesh Chakraborty,  Joe T.R. Clarke,  Christopher Forrest,  Ahmad S. Teebi, 

• Pages: 127-135
• First Published: 25 November 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families

Ravi Savarirayan,  Susan M. White,  Frances R. Goodman,  John M. Graham Jr.,  Martin B. Delatycki,  Ralph S. Lachman,  David L. Rimoin,  David B. Everman,  Matthew L. Warman, 

• Pages: 136-142
• First Published: 24 September 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

FOXL2-mutations in blepharophimosis-ptosis—epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

Siv Fokstuen,  Stylianos E. Antonarakis,  Jean-Louis Blouin, 

• Pages: 143-146
• First Published: 11 December 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients

Gen Nishimura,  Tomomi Honma,  Takashi Shiihara,  Noriyo Manabe,  Eiji Nakajima,  Masanori Adachi,  Makoto Mikawa,  Yoshimitsu Fukushima,  Shiro Ikegawa, 

• Pages: 147-153
• First Published: 18 September 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk

Katrina Armstrong,  Barbara Weber,  Jill Stopfer,  Kathleen Calzone,  Mary Putt,  James Coyne,  J. Sanford Schwartz, 

• Pages: 154-160
• First Published: 07 October 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Somatic instability of the androgen receptor CAG repeat in a normal female

Andrew Sharp,  Jane Hurst, 

• Pages: 161-163
• First Published: 19 September 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

Nicola Brunetti-Pierri,  Maria Vittoria Andreucci,  Rosaria Tuzzi,  Giovanna Roberta Vega,  George Gray,  Carol McKeown,  Andrea Ballabio,  Generoso Andria,  Germana Meroni,  Giancarlo Parenti, 

• Pages: 164-168
• First Published: 02 October 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Clinical Reports

Full Access

full

Oligoyric microcephaly in a child with Williams syndrome

Francesca Faravelli,  Stefano D'Arrigo,  Irene Bagnasco,  Angelo Selicorni,  Ludovico D'Incerti,  Daria Riva,  Chiara Pantaleoni, 

• Pages: 169-171
• First Published: 07 October 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

Sperm segregation patterns by fluorescence in situ hybridization studies of a 46,XY,t(2;6) heterozygote giving rise to a rare triploid product of conception with a 69,XXY,t(2;6)(p12;q24)der(6)t(2;6)(p12;q24)pat karyotype

A.S.T. Lim,  T.H. Lim,  S.K. Kee,  R. Chieng,  S.K. Tay, 

• Pages: 172-176
• First Published: 11 October 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Full Access

full

CHARGE association and secondary hypoadrenalism

Paul A. James,  Salim Aftimos,  Paul Hofman, 

• Pages: 177-180
• First Published: 24 September 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Clinical Report

Full Access

full

Teebi hypertelorism syndrome: Additional cases

Ligiane Alves Machado-Paula,  Maria Leine Guion-Almeida, 

• Pages: 181-183
• First Published: 24 September 2002

• Abstract
• Full text
• PDF
• References
• Request permissions

Research Letters

Full Access

full

Mutation analysis of the MECP2 gene in patients with Rett syndrome

Francesca L. Conforti,  Rosalucia Mazzei,  Angela Magariello,  Alessandra Patitucci,  Anna L. Gabriele,  Maria Muglia,  Aldo Quattrone,  Agata Fiumara,  Rita Barone,  Lorenzo Pavone,  Rita Nisticò,  Loredana Mangone, 

• Pages: 184-187
• First Published: 02 October 2002

• First Page
• Full text
• PDF
• References
• Request permissions

Full Access

full

A supernumerary chromosome 20, identified by FISH, in a male with azoospermia—cause or coincidence?

S.E. McNerlan,  Patrick J. Morrison,  N. McClure,  N.C. Nevin, 

• Pages: 188-190
• First Published: 02 October 2002

• Full text
• PDF
• References
• Request permissions

Full Access

full

An unusual family with brachydactyly

Elias O. Silva, 

• Pages: 191-193
• First Published: 07 October 2002

• Full text
• PDF
• References
• Request permissions

Full Access

full

New syndrome with generalized lipodystrophy and a distinctive facial appearance: Confirmation of Keppen-Lubinski syndrome?

Daniele De Brasi,  Nicola Brunetti-Pierri,  Pasqua Di Micco,  Generoso Andria,  Gianfranco Sebastio, 

• Pages: 194-195
• First Published: 07 October 2002

• Full text
• PDF
• References
• Request permissions

Full Access

full

Exclusion of the SALL1 gene as a cause of branchio-oculo-facial syndrome

Walter Just,  Thea Trautmann,  Annette Baumstark,  Dietmar Müller, 

• Pages: 196-198
• First Published: 24 September 2002

• Full text
• PDF
• References
• Request permissions

Correspondence

Full Access

full

High risk of malignancy in mosaic variegated aneuploidy syndrome

Alasdair Hunter, 

• Page: 199
• First Published: 19 September 2002

• Full text
• PDF
• References
• Request permissions

Full Access

full

New case of “Apple-Peel” intestinal atresia and ocular anomalies with mosaic variegated aneuploidy

K.L. Bower,  N.R. Dennis,  D. Wellesley,  C.P.R. Williams,  P. Hodgkins,  C. Tyreman,  C.E. Browne,  J.C.K. Barber, 

• Pages: 200-201
• First Published: 11 December 2002

• Full text
• PDF
• References
• Request permissions

Sign up for email alerts

Enter your email to receive alerts when new articles and issues are published.

Email address*

Please select your location and accept the terms of use.

Country or location*

Open this select menuAfghanistanÅland IslandsAlbaniaAlgeriaAmerican SamoaAndorraAngolaAnguillaAntarcticaAntigua And BarbudaArgentinaArmeniaArubaAustraliaAustriaAzerbaijanBahamasBahrainBangladeshBarbadosBelarusBelgiumBelizeBeninBermudaBhutanBoliviaBonaire, Sint Eustatius And SabaBosnia And HerzegovinaBotswanaBouvet IslandBrazilBritish Indian Ocean TerritoryBrunei DarussalamBulgariaBurkina FasoBurundiCambodiaCameroonCanadaCape VerdeCayman IslandsCentral African RepublicChadChileChinaChristmas IslandCocos (keeling) IslandsColombiaComorosCongoCongo, The Democratic Republic Of TheCook IslandsCosta RicaCôte D'ivoireCroatiaCubaCuraçaoCyprusCzech RepublicDenmarkDjiboutiDominicaDominican RepublicEcuadorEgyptEl SalvadorEquatorial GuineaEritreaEstoniaEthiopiaFalkland Islands (malvinas)Faroe IslandsFijiFinlandFranceFrench GuianaFrench PolynesiaFrench Southern TerritoriesGabonGambiaGeorgiaGermanyGhanaGibraltarGreeceGreenlandGrenadaGuadeloupeGuamGuatemalaGuernseyGuineaGuinea-bissauGuyanaHaitiHeard Island And Mcdonald IslandsHoly See (vatican City State)HondurasHong KongHungaryIcelandIndiaIndonesiaIran, Islamic Republic OfIraqIrelandIsle Of ManIsraelItalyJamaicaJapanJerseyJordanKazakhstanKenyaKiribatiKorea, Democratic People's Republic OfKorea, Republic OfKosovo, Republic OfKuwaitKyrgyzstanLao People's Democratic RepublicLatviaLebanonLesothoLiberiaLibyan Arab JamahiriyaLiechtensteinLithuaniaLuxembourgMacaoMacedonia, The Former Yugoslav Republic OfMadagascarMalawiMalaysiaMaldivesMaliMaltaMarshall IslandsMartiniqueMauritaniaMauritiusMayotteMexicoMicronesia, Federated States OfMoldova, Republic OfMonacoMongoliaMontenegroMontserratMoroccoMozambiqueMyanmarNamibiaNauruNepalNetherlandsNetherlands AntillesNew CaledoniaNew ZealandNicaraguaNigerNigeriaNiueNorfolk IslandNorthern Mariana IslandsNorwayOmanPakistanPalauPalestinian Territory, OccupiedPanamaPapua New GuineaParaguayPeruPhilippinesPitcairnPolandPortugalPuerto RicoQatarReunionRomaniaRussian FederationRwandaSaint BarthélemySaint HelenaSaint Kitts And NevisSaint LuciaSaint MartinSaint Pierre And MiquelonSaint Vincent And The GrenadinesSamoaSan MarinoSao Tome And PrincipeSaudi ArabiaSenegalSerbiaSeychellesSierra LeoneSingaporeSint MaartenSlovakiaSloveniaSolomon IslandsSomaliaSouth AfricaSouth Georgia And The South Sandwich IslandsSouth SudanSpainSri LankaSudanSurinameSvalbard And Jan MayenSwazilandSwedenSwitzerlandSyrian Arab RepublicTaiwanTajikistanTanzania, United Republic OfThailandTimor-lesteTogoTokelauTongaTrinidad And TobagoTunisiaTürkiyeTurkmenistanTurks And Caicos IslandsTuvaluUgandaUkraineUnited Arab EmiratesUnited KingdomUnited StatesUnited States Minor Outlying IslandsUruguayUzbekistanVanuatuVenezuela, Bolivarian Republic OfViet NamVirgin Islands, BritishVirgin Islands, U.s.Wallis And FutunaWestern SaharaYemenZambiaZimbabwe

I consent to Wiley Online Library’s Terms of Use and processing of my personal data as disclosed in Wiley’s Privacy Policy.*I consent to my personal information being transferred outside of the People’s Republic of China as laid out in Wiley’s Privacy Policy.*(Optional) I consent to special offers, newsletter & promotions from Wiley. See Privacy Policy for more details.

Sign up to alerts

Continue

Tools

• Submit an article

• Journal Metrics

• Subscribe to this journal

More from this journal

• Call for Nominations: 2025 John M. Opitz Young Investigator Award
• Winners and Nominees for the 2024 John M. Opitz Young Investigator Award
• Virtual Issue: Cancer in Genetic Syndromes
• Virtual Issue: Robinow Article Series
• Virtual Issue: Sex Chromosome Disorders
• Virtual Issue: Case Reports in Diverse Populations
• Virtual Issue: Elements of Morphology: Standard Terminology
• All Virtual Issues
• CME Credit for Reviewers
• Nosology of genetic skeletal disorders: 2023 revision
• Self-Archiving Policy
• Getting Your Scientific Paper Written & Published When English Is Your Second Language