American Journal of Medical Genetics Part A This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 19, 2018 Category: Genetics & Stem Cells Authors: ManarZaghlula , Daniel G.Glaze , Gregory M.Enns , LorrainePotocki , Aloysia L.Schwabe , BernhardSuter Source Type: research

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 19, 2018 Category: Genetics & Stem Cells Authors: Nancy J.Butcher , ErikBoot , Anthony E.Lang , DanielleAndrade , JacobVorstman , DonnaMcDonald ‐McGinn , Anne S.Bassett Source Type: research

The first reported case of an inherited pathogenic CHD2 variant in a clinically affected mother and daughter
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 9, 2018 Category: Genetics & Stem Cells Authors: Andrea KlunderPetersen , HaleyStreff , MariTokita , Bret L.Bostwick Source Type: research

Acute lymphoblastic leukemia in a male with Simpson –Golabi–Behmel syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: MariMinatogawa , FuminoriIwasaki , TakayukiYokoi , JunichiNagai , SatoruSakazume , HiroakiGoto , KenjiKurosawa Source Type: research

Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: AnjaliSadhwani , Neville E.Sanjana , Jennifer M.Willen , Stephen N.Calculator , Emily D.Black , Lora J. H.Bean , HongLi , Wen ‐HannTan Source Type: research

Tissue ‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: JamieMcDonald , Whitney L.Wooderchak ‐Donahue , KatharineHenderson , EleriPaul , AshleyMorris , PinarBayrak‐Toydemir Source Type: research

Systemic lupus erythematosus in a patient with Noonan syndrome ‐like disorder with loose anagen hair 1: More than a chance association
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: TomokoUehara , NaokiHosogaya , NobutakeMatsuo , KenjiroKosaki Source Type: research

Timothy syndrome ‐like condition with syndactyly but without prolongation of the QT interval
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: RikaKosaki , HiroshiOno , HiroshiTerashima , KenjiroKosaki Source Type: research

Novel PLS3 variants in X ‐linked osteoporosis: Exploring bone material properties
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: MeenaBalasubramanian , NadjaFratzl ‐Zelman , RoryO'Sullivan , MaryBull , NicolaFA Peel , Rebecca CPollitt , RebeccaJones , ElizabethMilne , KathSmith , PaulRoschger , KlausKlaushofer , Nicholas JBishop Source Type: research

KIF16B is a candidate gene for a novel autosomal ‐recessive intellectual disability syndrome
American Journal of Medical Genetics Part A, EarlyView. (Source: American Journal of Medical Genetics Part A)
Source: American Journal of Medical Genetics Part A - May 8, 2018 Category: Genetics & Stem Cells Authors: SaudAlsahli , Stefan T.Arold , AhmedAlfares , BaderAlhaddad , MohammedAl Balwi , Erik ‐JanKamsteeg , WaleedAl‐Twaijri , MajidAlfadhel Source Type: research